Active IRD Clinical Trials
A live directory of active and recruiting clinical trials for inherited retinal diseases, automatically synchronized daily from ClinicalTrials.gov. New trials automatically generate an informational article.
Showing 148 trials
Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)
Other
The goal of this clinical trial is to learn if drug OPGx-BEST1 works to treat BVMD and ARB Bestrophinopathy. It will also learn about the safety of drug OPGx-BEST1. The main questions it aims to answer are: Evaluate the safety and tolerability of drug OPGx-BEST1 in one eye (the treatment eye), for 5 years post-injection, in participants with BVMD or ARB. A second question it aims to answer is identification of the most appropriate dose strength of OPGx-BEST1 for clinical development. Evaluate the efficacy of single injection of OPGx-BEST1 in one eye for 5 years post-injection. What medical problems do participants have when taking drug OPGx-BEST1?
Cell Collection to Study Eye Diseases
Other
Background: \- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, saliva, urine, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: \- To collect hair, skin, saliva, urine, and/or blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: * Individuals affected with ocular condition is one year of age or older. * Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. * Unaffected individuals are seven years of age or older. Design: * The study requires one visit to the National Eye Institute. * Participants will be screened with a medical and eye disease history. They may also have an eye exam. * Participants will provide a hair sample, saliva sample, urine sample, blood sample, and/or a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
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The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.
SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)
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A First-in-Human multi-centre, prospective, Phase1a, Single Ascending Dose (SAD) interventional study of PYC-001 in participants with confirmed OPA1 mutation (haploinsufficiency) associated ADOA.
Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy
Other
This study aims to gather safety data and determine the optimal dosing regimen for PYC-001 in participants with confirmed OPA1 mutation-associated ADOA. Approximately 21 participants from across UK and Australia are expected to be enrolled, depending on safety review committee (SRC) throughout the course of the study. Participants may be assigned to any of the following: 1. A single 60ug dose of PYC-001 2. Three doses of 10ug PYC-001 at an interval of 8 weeks 3. Three doses of 10ug PYC-001 at an interval of 12 weeks 4. Three doses of 30ug PYC-001 at an interval of 8 weeks 5. Three doses of 30ug PYC-001 at an interval of 12 weeks Following completion of the 4 week safety review of the single 60ug of PYC-001 cohort, and if the 60 μg dose level is deemed safe by the SRC, the following cohorts will also be available: 6. Three doses of 60ug PYC-001 at an interval of 8 weeks 7. Three doses of 60ug PYC-001 at an interval of 12 weeks
Tolerance and Efficacy Nicotinamide (vitamin B3) in Dominant Optic Atrophy OPA1
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Dominant Optic Atrophy (hereafter known as DOA) is a neurodegenerative pathology of the optic nerve inducing progressive loss of central visual field and visual acuity. There is currently no proven treatment for this disease. The metabolomics work of Pascal Reynier's team revealed a specific metabolomic signature of DOA in the plasma of patients. This metabolomic signature revealed a relative deficiency in nicotinamide compared to a control population, a vitamin compound (vitamin B3) known to be neuroprotective for the optic nerve and mitochondria. Note that the investigator have also identified this nicotinamide deficiency in primary open-angle glaucoma and Leber's hereditary optic neuropathy, the other most common cause of hereditary optic neuropathy, these three optic nerve conditions sharing a common pathophysiological mechanism of mitochondrial deficit. In addition, an American team demonstrated the high neuroprotective power on the optic nerve of nicotinamide in a mouse model of glaucoma. These arguments converge towards the potential therapeutic interest of this vitamin in degenerative pathologies of the optic nerve. This is encouraged by the fact that two randomized clinical trials have confirmed a benefit of nicotinamide in glaucoma. The objective of this pilot study is to test the tolerance and efficacy of nicotinamide in DOA and DOA+ patients.
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
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The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations
Other
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation. This study will enroll subjects aged ≥ 18 years old and ≤ 75 years old to receive a single unilateral intravitreal (IVT) injection of NR082 to evaluate its safety and efficacy. The clinical manifestations of all subjects are to be reduced visual acuity caused by LHON associated with ND4 mutation, with laboratory test showing G11778A mutation (a CLIA-certified laboratory) and reduced visual acuity lasted for \> 6 months and \< 10 years.
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
Other
The goal of this Clinical trial is to assess the safety and efficacy of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy (LHON)
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Other
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines. There is no biomarker to determine when optic nerve damage begins before visual acuity decline occurs. We hope that the analysis of metabolomics will reveal specific metabolomic profiles and different vitamin B3 and B9 levels depending on whether there are OCT signs of optic nerve damage in healthy patients with mtDNA mutations suggestive of LHON (11778, 3460 or 14484). The existence of an increase in the thickness of the optic fiber layer, whose normal values are well established, constitutes such a sign in favor of optic nerve damage.
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
Gene Therapy
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation. This study will enroll subjects aged ≥ 12 years old and ≤ 75 years old to receive a single bilateral intravitreal (IVT) injection of NR082 to evaluate safety and efficacy. The clinical manifestations of all subjects are to be reduced visual acuity caused by LHON associated with ND4 mutation, with laboratory test showing G11778A mutation and reduced visual acuity lasted for \>6 months and \<10 years.
Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy
Other
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disease that causes sudden and severe vision loss, usually in young adults. It is linked to mutations in mitochondrial DNA that impair energy production in retinal ganglion cells, leading to degeneration of the optic nerve. Currently, treatment options are very limited and often ineffective. Recent research has shown that patients with LHON have lower levels of nicotinamide (vitamin B3), a key molecule for mitochondrial energy metabolism. Nicotinamide is a precursor of NAD, an essential cofactor for cellular energy production. Experimental studies and clinical trials in related optic nerve diseases suggest that nicotinamide may protect retinal ganglion cells. Our hypothesis is that supplementation with high-dose nicotinamide could restore NAD levels, support mitochondrial activity, and help preserve or improve vision in LHON. This pilot study will evaluate the effectiveness and safety of oral nicotinamide (2 grams per day for 12 months) in patients who developed LHON within the past 18 months and carry one of the two most severe mutations (m.11778G\>A or m.3460G\>A). The main goal is to measure changes in visual acuity over time using standardized eye charts. Secondary objectives include assessing visual fields, retinal structure by optical coherence tomography (OCT), blood nicotinamide levels, and quality of life. Liver function will be monitored to ensure safety. If this study shows promising results, it could pave the way for a larger randomized trial and ultimately offer a new therapeutic option.
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
Other
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic neuropathy-Plus (LHON-Plus) participants will undergo simultaneous enrollment in two disease-based arms and receive daily oral doses of glycerol tributyrate to assess its safety and potential for efficacy using clinical, biochemical, and molecular evidence. This study will utilize a two-month baseline lead-in phase to establish and document the clinical baseline for each participant in both arms in order to compare the molecular and clinical parameters. This is clinically relevant in light of the high clinical heterogeneity among subjects affected by the same mitochondrial disease (MELAS or LHON-Plus). For ethical concerns prompted by the lack of treatment for these two intractable and progressive mitochondrial diseases, there will not be a placebo control group. Thus, each participant will act as their own control and receive oral doses of glycerol tributyrate, eliminating the need for a placebo. Considering the high clinical heterogeneity among participants affected by MELAS or LHON-Plus and some clinical divergence between MELAS and LHON-Plus, this strategy is beneficial to every enrolled participants, as each will receive the investigational drug, glycerol tributyrate. In addition, this approach will determine the subject-specific maximal optimized dose in a personalized medicine-based approach. After approval of the IRB protocol from the Institutional Review Board Data and signed consent form from all participants, this investigational basket clinical trial has three phases spanning over 20 months: * A baseline lead-in phase (2 months) to collect participant-specific baseline for clinical, biochemical, molecular and metabolic biomarkers that will be monitored throughout the subsequent dose-escalation and clinical phases. * A dose-escalation ph
Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy
Other
The objective of this clinical study is to select the optimal dose and evaluate the safety and efficacy of NR082 in treatment of LHON caused by mitochondrial ND4 gene mutation. Part 1 (Phase 1/2) is a safety dose-finding study, which will enroll subjects aged ≥ 18 years old and ≤ 75 years old to receive a single unilateral intravitreal (IVT) injection of NR082 to observe its safety and efficacy. In Part 2 (Phase 3) of the clinical study, the dose recommended after the end of Part 1 is used to further verify the safety and efficacy of the study drug. Part 2 of the study is divided into the safety run-in phase and the randomized, double-blind and control study. Subjects aged ≥ 12 years and ≤ 75 years will be enrolled in the Part 2. The run-in phase will enroll 6 evaluable subjects. After monitoring for at least 6 weeks, if no new safety signals are observed, the clinical trial will enter the randomized, double-blind and control study phase upon approval by the Safety Review Committee(SRC). The clinical manifestation of all subjects is reduced visual acuity caused by LHON associated with ND4 mutation, and central laboratory test showed G11778A mutation (a CLIA-certified laboratory), while the reduced visual acuity lasted for \> 6 months and \< 10 years.
New Non-invasive Modalities for Assessing Retinal Structure and Function
Other
This study investigates a new technology to assess the structure and function inside the eye. Retinal imaging of subjects with inner and outer retinal defects to detect areas of abnormal structure and function compared to other visual function tests.
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
Other
OCT-A and eco-colordoppler are technologies which enable optic nerve head (ONH) blood perfusion detection. The aim of the study is to assess ONH vascular and structural components in optic neuropathies with and without ONH edema or pseudo-edema with OCT-A, and analyze ONH blood-flow with eco-colordoppler.
SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
Other
The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in children with early-onset inherited retinal dystrophies (EORDs). Participants will have research imaging with SS-HH-OCT at the time of clinically-indicated eye examinations or procedures. The investigators aim to establish the basis for utilization of OCT imaging in earlier diagnosis and disease monitoring in children with EORDs. This work will set data reference standards and IRD endpoints that can be used in clinical trials.
VIsual Cerebral ConnecTivity On Functional Magnetic Resonance Imaging in Patients With Hereditary REtinal Dystrophies
Other
The Rothschild Foundation A Hospital follows a cohort of approximately 300 patients with hereditary retinal dystrophy. These patients are followed in ophthalmology consultation every year. In order to plan the MRI on the day of the annual consultation and to avoid additional travel for patients, patients will be informed of the study before the consultation (transmission of an information letter and the information note from study). If patients agree to participate in the study, rMRI will be scheduled. During the follow-up ophthalmologic consultation, after checking the inclusion and non-inclusion criteria, the study information will be repeated, and patients who still agree to participate will sign the study consent.
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Other
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases. The following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older. Patients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following: 1. X-rays 2. Consultations with specialists 3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome. 4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness) 5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm. Patients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options. Participating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week
Promising ROd-cone DYstrophy Gene therapY
Other
This is a two-step, multicenter, Phase I/II study including an open-label dose-escalation phase (Step 1) and a three-arm, controlled, double-masked, randomized extension phase (Step 2), in subjects with advanced RCD due to a mutation in the RHO, PDE6A, or PDE6B gene.
Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
Other
Background: The retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments. Researchers want to see if a virtual reality (VR) tool can provide an easier and more accurate way to assess mobility. Objective: To learn if researchers can track changes in mobility in people with retinal disease using a new VR tool. Eligibility: People aged 5 and older with retinal disease that affects their vision, and healthy volunteers. Design: Participants will have 2-3 clinic visits. Participants will wear goggles or sit in front of a screen while sitting. Using a game controller, they will navigate through 4 obstacle courses presented in VR. Participants will have a medical history exam. They will answer questions about their family history. They will fill out questionnaires about the vision and mobility issues they have in their daily lives. Participants will have a complete eye exam. They will read letters from a chart. Their eye pressure will be measured. Their pupils may be dilated with eye drops. Pictures of their eye will be taken. Lights will be shined in their eyes. Participants will take a visual field test. For this, they will look into a dome and press a button when they see a light. Participants will have an electroretinogram. For this, they will sit in the dark with their eyes patched. Then their eyes will be numbed with eye drops and they will wear contact lenses while watching flashing lights. Participants will have optical coherence tomography. This is a noninvasive procedure. It produces cross-sectional pictures of the retina....
Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment
Other
This pilot clinical trial evaluates whether non-invasive brain stimulation improves the orientation and mobility (O\&M) skills of individuals with constricted visual fields in both eyes. The study is composed of three visits. The first visit is meant to confirm eligibility by performing a few clinical tests. Eligible participants will then complete two additional visits, one in which the participants receive active stimulation, and one in which the participants receive placebo (sham) stimulation. Stimulation will be administered in a randomized, double-blind order. To evaluate improvement, various measures of O\&M performance will be assessed on a standardized obstacle course featuring static natural and artificial obstacles at defined intervals after the intervention. The investigators hypothesize that the application of brain stimulation to region of the brain responsible for visual processing will improve the orientation and mobility skills of individuals with binocular constricted visual fields immediately following stimulation, and the results will inform the design of a future, larger-scale study.
Prospective Natural History Study of Retinitis Pigmentosa
Other
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
Activating Spinal Circuits to Improve Walking, Balance, Strength, and Reduce Spasticity
Other
For many people with spinal cord injury (SCI), the goal of walking is a high priority. There are many approaches available to restore walking function after SCI; however, these approaches often involve extensive rehabilitation training and access to facilities, qualified staff, and advanced technology that make practicing walking at home difficult. For this reason, developing training approaches that could be easily performed in the home would be of great value. In addition, non-invasive spinal stimulation has the potential to increase the effectiveness of communication between the brain and spinal cord. Combining motor skill training (MST) with transcutaneous spinal stimulation (TSS) may further enhance the restoration of function in persons with SCI. Therefore, the purpose of this study is to determine if moderate-intensity, MST can improve walking-related outcomes among persons with SCI and to determine if the addition of non-invasive TSS will result in greater improvements in function compared to training alone.
Angiogenic Biomarkers in Juvenile Idiopathic Arthritis
Other
The aim of the study is to determine whether serum inflammatory angiogenic markers (eg, semaphorins, CCN1) predict severity of juvenile idiopathic arthritis defined by structural progression and/or therapeutic escalation.
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Other
Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.
Epidural Stimulation for Upper Extremity Function
Other
Restoring upper extremity function in patients with cervical spinal cord injury is extremely important for patients' independence and quality of life. At present, there are limited options for hand or arm reanimation in this patient population. Nerve transfer is one such option that can partially restore the natural movement of hand or arm function in select patients. The investigators are interested in understanding whether recovery of hand or arm motor function after nerve transfer can be augmented by cervical epidural spinal cord stimulation.
Evaluating the Safety and Tolerability of Orally Administered DF-003 in ROSAH Syndrome Patients
Other
The purpose of this study is to evaluate the safety and tolerability of DF-003 in retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome patients.
Study of New Mutations in Cone Disorders
Other
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants
EyeConic: Qualification for Cone-Optogenetics
Other
This study aims to prepare for the first-in-human clinical trial of cone optogenetics vision restoration. As a first step, this worldwide multicenter ocular imaging study (EyeConic Study) is performed to identify eligible patients.
Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
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Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia. We present a case of bradet-biedl syndrome presenting with intellectual disabilities, post-axial polydactyly, gingival hyperplasia, and a significant family history of scleroderma. The diagnosis was determined based on clinical physical examination findings. The patient is undergoing treatment with Thyroxine. Although medical staff are incapable of treatment, systems support adjust the overall well-being and quality of life for individuals with Bardet-Biedl syndrome and their families.
GROWing Up With Rare GENEtic Syndromes
Other
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
Other
The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1. The main questions it aims to answer are: * Is AXV-101 safe and tolerable to use in participants with BBS1? * To determine the therapeutic dose of AXV-101 in participants with BBS1 * To investigate the concentration of AXV-101 in blood, urine and tears (both eyes) Participants will undergo comprehensive ophthalmic assessments to evaluate functional and structural changes from baseline to one year in the treated eye compared with the untreated eye. Additional evaluations will include blood, urine, and tear testing for safety and pharmacokinetics, and quality of life questionnaires completed by both participants and caregivers. Safety will also be assessed by monitoring the frequency and severity of adverse events, including serious adverse events, through medical history, physical examinations, and laboratory testing.
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Other
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life. The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations
ARPKD Database Study
Other
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease). The lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks. This study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are: 1. \- Clinical Database: • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases. 2. \- Mutational Database: * Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and m
Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)
Other
This trial is to evaluate the safety and efficacy of JWK002 treatment of X-linked retinoschisis(XLRS). This study will enroll subjects aged 5-18 years old to receive a sub-retinal injection of JWK002.
Safety and Efficacy Study of LX103 Treatment of X-Linked Retinoschisis (XLRS)
Other
The goal of this study is to evaluate the safety and efficacy of LX103 treatment of X-linked retinoschisis. This study will enroll subjects aged ≥ 6 years old to receive a single unilateral intravitreal (IVT) injection of LX103 to evaluate its safety and efficacy.
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
Other
This study will explore the causes and eye problems of X-linked juvenile retinoschisis (XLRS), an inherited disease that causes vision loss primarily in young males. The vision loss, which worsens over time, is a result of schisis, or splitting, of the layers of the retina (tissue that lines the back of the eye). A better understanding of why and how XLRS develops might lead to improved treatments. Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease (such as the mother of the patient) may be eligible for this study. Other family members of patients also may be enrolled. Patients will undergo the following tests and procedures: * Personal and family medical history to review past and current medical conditions and treatments, particularly regarding eye disease, and to construct a family tree. * Eye examination to assess visual acuity (eye chart test) and examine pupils, lens, retina, and eye movements. The pupils will be dilated with drops for this examination. * Photography of the retina to help evaluate the status of the retina. * Specialized eye tests to evaluate color vision, field of vision, and ability to see in the dark. * Electroretinogram (ERG) to examine what happens to the eyes after a flash of bright light. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes. The patient looks inside a large empty bowl and then a light flashes, first in the dark and then with a light turned on inside the bowl. The contact lenses sense small electrical signals generated by the retina when the light flashes. * Blood test to examine DNA for genetic study of XLRS. Family members will provide a blood sample for genetic study. ...
ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis
Other
This study will evaluate the safety and tolerability of ATSN-201 in male subjects ≥ 6 years of age with RS1-associated X-linked retinoschisis (XLRS).
Safety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis
Other
The goal of this clinical trial is to evaluate the safety and efficacy of IVB102 injection in subjects with XLRS.
Safety and Efficacy Study of Novel Gene Therapy ZM-01 for X-linked Retinoschisis Patients
Other
This trial is meant to evaluate the safety and efficacy of ZM-01 of X-linked retinoschisis. Unilateral intravitreal injections (IVT) will be given into the subject's Study Eye.
Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia
Gene Therapy
The purpose of this study is to proof the safety and efficacy of a single bilateral subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia.
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Other
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases. Objective: To collect information and DNA samples for the study of eye diseases. * Primary objective --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual * Secondary objectives * To enhance recruitment for clinical trials and investigations in inherited eye diseases * To establish genotype-phenotype correlations for rare eye diseases Eligibility: People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed. Design: Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams. Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH. Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic. The eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.
Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial)
Gene Therapy
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-401 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.
Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial)
Other
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.
Natural History Study of Inherited Retinal Diseases
Other
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal Dystrophies (IRDs). The study will recruit approximately 200 subjects, encompassing a heterogeneous population of IRD patients-spanning a range of genotypes and clinical severities-as well as control participants devoid of retinal pathology. All enrolled individuals will undergo a standardized battery of evaluations, including quantitative color vision assessment, best-corrected visual acuity (BCVA) determination, and advanced multimodal retinal imaging. The principal aim is to characterize the relationship between impairments in color discrimination and morphologic disruptions within the outer retinal layers, with particular emphasis on the continuity and reflectivity of the ellipsoid zone (EZ)-historically referred to as the inner segment/outer segment (IS/OS) junction-assessed through spectral-domain optical coherence tomography (SD-OCT). Further, the study will explore associations between chromatic perceptual deficits and underlying genetic mutations, mutation patterns specific to IRD subtypes, and the influence of patient age on the severity and progression of color vision loss. A key secondary objective is the clinical appraisal and validation of a novel diagnostic modality, the Moji Low-Vision Color Discrimination Test (Moji Test), which is specifically engineered to quantify residual color perception in individuals with advanced central visual impairment. The test's discriminatory capacity will be benchmarked against established color vision testing paradigms to assess its reliability, clinical sensitivity, and suitability for implementation in populations with severe visual acuity reduction. By incorporating a genetically and phenotypically diverse IRD cohort, the study is designed to enable granular, stratified analyses that wil
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Other
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models. Human hereditary hearing impairment is the result of abnormal ear development, abnormal ear function or both. Although the genes for numerous deafness loci have been mapped and identified, there are still many families segregating deafness as a monogenic trait but a mutant allele can t be ascribed to one of the currently reported deafness genes . In order to map and identify novel mutated genes associated with hearing loss in humans, we will continue to ascertain large families segregating syndromic and nonsyndromic deafness as a monogenic trait. Study population: This study will ascertain subjects from consanguineous Pakistani families segregating hearing loss consisting of both nonsyndromic and syndromic forms of deafness of genetic etiology. Since a majority of Pakistani marriages are between first cousins, this tends to bring together the same recessive mutations for hearing loss with multiple affected individuals within single family lines, which is an advantage for this genetic study. A few years ago we stopped ascertaining families in India. We continue to ascertain both affected and unaffected Pakistani family members from age 2 years and up. Adults provide informed consent both for themselves and their children who agree to participate in this study. We will ascertain both genders and all Pakistani races and ethnicities. Design: Subjects will be screened and consented by our collaborating Associate Investigator in Pakistan. After consenting, the subjects will undergo a history and physical, audiological assessment and testing, vestibular assessment and testing, and blood and urine analysis tests, along with a blood sample or buccal swab sample that will be used for genomic DNA extraction. Probands at the time of ascertainment are init
Adaptive Optics Imaging of Outer Retinal Diseases
Other
The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.
Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
Gene Therapy
The purpose of the 081-101 study is to evaluate the safety and tolerability of a single subretinal injection of AAVB-081 in USH1B patients with retinitis pigmentosa due to a mutation in the MYO7A gene. The study will also assess the initial efficacy following AAVB-081 administration.
Rate of Progression in USH2A-related Retinal Degeneration
Other
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39). RUSH2A Extension Study: The purpose of this addendum is to extend RUSH2A to 7- and 9-year visits, with the goal to use longer term data to further develop and support early candidate endpoints as possible clinical trial outcomes.
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
Other
The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.
A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
Other
Primary Objective: To evaluate the long-term safety and tolerability of SAR421869 in patients with Usher syndrome Type 1B Secondary Objective: To assess long-term safety and biological activity of SAR421869
BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
Other
First-in-Human Phase-1 Clinical Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Food Effect of Single and Multiple Ascending Doses of BF844 when Administered Orally to Healthy Adult Participants.
High Resolution Retinal Imaging
Other
Studying the morphology and function of the normal and diseased retina in vivo is needed for advancing the detection, diagnosis, and treatment of retinal disease. This protocol uses an adaptive optics scanning laser ophthalmoscope (AOSLO) to image the normal and diseased retina with individual cellular resolution non-invasively. The primary objective of this study is to obtain and analyze high-resolution images of the retina, in particular by imaging the cone photoreceptor mosaic, the retinal vasculature and other retinal layers. The study design will involve case-control studies, where cases are followed over time. Subjects age 7 and older may be invited to participate. The main research procedure involves retinal imaging with the AOSLO. The primary endpoint is the observation of differences in retinal images between subjects with and without retinal diseases. These changes will be quantified by examining the cell density, size, spacing and regularity of the cone photoreceptor mosaic, as well as examining the differences between other retinal layers.
Study to Evaluate Safety of RTx-015 Injection in Retinitis Pigmentosa or Choroideremia Patients (ENVISION)
Other
A Phase 1, open-label, non-randomized, dose-escalation study, where approximately 18 eligible patients with retinitis pigmentosa or choroideremia will be enrolled sequentially in up to 4 dose cohorts of RTx-015. Enrolled patients will receive a single, unilateral intravitreal injection of RTx-015 in the study eye at Visit 3 (Day 0) and be followed for a total of 5 years.
Long-term Safety and Efficacy Follow-up of BIIB111 for the Treatment of Choroideremia and BIIB112 for the Treatment of X-Linked Retinitis Pigmentosa
Other
The objective of the study is to evaluate the long-term safety and efficacy of a sub-retinal injection of BIIB111 in participants with Choroideremia (CHM) who have been previously treated with BIIB111 and who have exited an antecedent study; these treated participants will be compared with untreated control participants who have exited the STAR (NCT03496012) study and BIIB112 in participants with X-linked retinitis pigmentosa (XLRP) who have been previously treated with BIIB112 and who have exited an antecedent study.
Effects of Aerobic Exercise on the Cerebral Arterial System, Cognitive, and Motor Function in Post-stroke Patients.
Other
Background: Stroke is the second leading cause of death and disability worldwide and in Hong Kong, 6.2% of all registered deaths in 2020 were due to cerebrovascular disease. Exercise training has the potential to improve the deconditioned hemodynamic, motor, and cognitive functions associated with stroke. Purpose: The proposed study seeks to investigate the effects of AET on the large intracranial and extracranial cerebral arteries' morphological and haemodynamic features and the cognitive and motor functions in post-stroke chronic patients. Additionally, the study seeks to compare the cerebral arteries' features between post-stroke patients and age-matched controls without stroke. Furthermore, the project seeks to assess the association between the cerebrovascular system changes and the cognitive and motor function changes in post-stroke patients undergoing AET. Study Design: A Randomised controlled trial (RCT) in which the post-stroke patients will be randomly assigned into three groups consisting of a control group and two AET interventional groups (treadmill and cycle ergometer). Each group will target sample size of 20 participants. The target dosage for the two AET modes will consist of 1.) a session duration=30mins, 2.) frequency=3times/week, 3.) high intensity=(60-84% heart rate reserve (HHR).4.) Types=Treadmill and cycle ergometer 5.) overall program duration=3months. Data collection methods: Quantitative data on the cerebral arteries' haemodynamic and morphological features will be assessed using duplex carotid ultrasound (DCUS) and transcranial Doppler (TCD) ultrasound techniques. Montreal cognitive assessment (HK) version and six-minute walk test (6MWT) will assess cognitive and motor functions respectively. The data will be assessed at three time periods of during the 3 months AET program Significance of the study: The study has the potential to inform the clinical decision making process on the usefulness of AET in improving post-stroke chronic pat
Dose Escalation Study of Intravitreal 4D-110 in Patients With Choroideremia
Other
This study will evaluate safety, tolerability, and preliminary efficacy of a single intravitreal (IVT) injection of a recombinant adeno-associated virus (AAV) gene therapy, 4D-110, in male patients with genetically-confirmed Choroideremia (CHM).
HYPER MIND - Hyperoxia Effects on Cerebral Hemodynamics
Other
This study aims to better understand how short periods of exposure to high oxygen levels affect blood flow in the brain of patients who are intubated and mechanically ventilated in the Intensive Care Unit (ICU). Many ICU patients receive more oxygen than strictly necessary, and high blood oxygen levels (hyperoxemia) are very common. However, the immediate effects of short hyperoxic exposures on cerebral circulation and autoregulation remain poorly understood. In this study, patients who already require mechanical ventilation for medical reasons will undergo a brief and controlled increase in the oxygen delivered through the ventilator (FiO₂). During this time, we will continuously monitor blood flow in one of the main brain arteries using a non-invasive ultrasound technique called transcranial Doppler (TCD). The goal is to evaluate how cerebral blood flow, pulsatility, and autoregulatory capacity change during and after a short hyperoxic stimulus. No additional invasive procedures are required beyond standard ICU monitoring, except for the temporary adjustment of the ventilator's oxygen settings and arterial blood gas sampling, which are part of usual care in critically ill patients. Participation does not provide direct clinical benefit but may help improve future oxygen management in ICU patients. The study involves minimal risk, as short hyperoxic exposures are already common in routine care and will be interrupted immediately in case of any adverse event.
An Clinical Study Evaluating the Safety, Tolerability, and efficAcy of HG005 in StaRgardT Disease
Other
Stargardt disease type 1 (STGD1) is a rare genetic eye condition that causes progressive vision loss, often beginning in childhood or adolescence. It is the most common form of inherited macular degeneration and can lead to legal blindness. STGD1 is caused by mutations in the ABCA4 gene, which normally helps clear waste from the photoreceptor cells in the retina. When ABCA4 gene doesn't function properly, toxic substances like A2E accumulate and damage the retinal pigment epithelium (RPE), leading to vision loss. There are currently no approved treatments for STGD1. HG005 is an investigational gene therapy designed to deliver a healthy copy of the ABCA4 gene to the retina. Because the gene is too large to fit into a single AAV (adeno-associated virus) vector, HG005 used two AAV vectors that work together in retinal cells to produce the full-length, functional ABCA4 protein. The goal of HG005 is to restore normal waste removal, protect retinal cells from further damage, and slow or stop vision loss.
Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
Other
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision. The mission of the VRAI is to enable the highest quality, standardized efficacy testing of patients with visual impairment. The VRAI facilitates the development and refinement of existing endpoints specifically for testing patients with Low Vision.
A Study of DC6001 Tablet in Healthy Chinese Adult Subjects
Other
This study adopts a randomized, double-blind, parallel placebo-controlled dose-escalation design, consisting of two parts: Part 1 includes a single ascending dose (SAD) study plus a food effect (FE) study, and Part 2 is a multiple ascending dose (MAD) study.
Phase 3 Study of ALK-001 on the Progression of Stargardt Disease
Other
This study evaluates the efficacy and safety of investigational study drug ALK-001 in participants 8 to 45 years of age, inclusive, with symptoms and signs of autosomal recessive Stargardt disease (STGD)
Restoration of Central Vision With PRIMA in Patients With Photoreceptor Degeneration
Other
The objective of this study is to evaluate the efficacy and safety of the PRIMA Products in participants with inherited retinal degeneration affecting the macula (including but not limited to Stargardt disease, and Retinitis Pigmentosa). Eligible participants will be implanted with the PRIMA Stim implant. The participants will be assessed with various visual function and functional vision tests at defined timepoints throughout the clinical investigation with the PRIMA Products. The purpose of this study is to gather enough clinical data to support the clinical evaluation required for the continuous development to improve the PRIMA Products.
Feasibility and Tolerability Study of Smart Contact Lens With Healthy Subjects and Patients With Stargardt's Disease
Other
Oculometry is becoming increasingly popular in fields such as enhanced reality and healthcare, but remains limited by complex devices that are poorly adapted to the needs of users, particularly the visually impaired. This research proposes to explore a smart contact lens (SCL)-based system to overcome these limitations, particularly for people with central visual deficits such as Stargardt's disease.
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
Other
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75 subjects
A Prospective Observational Study to Assess the Reliability and Validity of the MLSDT
Other
The goal of this observational study is to assess the reliability and validity of the 9-object MLSDT for evaluation of participants with moderate to severe vision impairment when tested without a wearable low-vision magnifying aid (eGlasses) and then with eGlasses. These results will be compared to ETDRS testing results for the same participants without eGlasses and then with eGlasses. Two cohorts will consist of participants who have vision loss due to STGD or geographic atrophy (GA) due to age-related macular degenerations (AMD). Normally sighted participants will provide a control group.
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Other
Background: \- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person s genes explain why some people develop plaquenil-induced retinal toxicity while others do not. Objectives: \- To investigate possible correlations between certain genes or genetic mutations and plaquenil-induced retinal toxicity. Eligibility: * Individuals at least 18 years of age who have previously used plaquenil. * Both individuals who have and have not developed plaquenil-induced retinal toxicity will be eligible for this study. Design: * The study requires one or two visits to the National Eye Institute or an outpatient study clinic over a maximum 2-year period. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for testing. * No treatment will be provided as part of this protocol.
Non-interventional Long Term Follow-up Study of Participants Previously Enrolled in the STARLIGHT Study
Gene Therapy
The current study is a non-interventional long-term safety follow-up of the subjects who completed STARLIGHT, in accordance with FDA guidance on recipients of human gene therapy products.
The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
Other
Oral disulfiram (Antabuse®) has been shown to improve image-forming vision in animal models with retinal degeneration due to its ability to decrease Retinoic Acid synthesis and consequently reduce hyperactivity in the inner retina. The investigator will aim to evaluate the impact of oral disulfiram on the vision of patients with retinal degeneration who are being treated with the drug in the management of their concurrent alcohol use disorder.
Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
Other
The purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8 and 70 years old. Funding Source - FDA OOPD
A Study of AAVB-039 in Participants With Stargardt Disease (STGD1)
Gene Therapy
The purpose of the 039-101 study is to evaluate the safety and tolerability of a single subretinal injection of AAVB-039 in participants with Stargardt disease secondary to a biallelic mutation of the ABCA4 gene. The study will also assess initial efficacy following AAVB-039 administration.
Safety and Efficacy of a Single Subretinal Injection of JWK006 Gene Therapy in Subjects With Stargardt Disease(STGD1)
Other
The purpose of the study is to assess the safety and efficacy of JWK006 in Stargardt Disease(STGD1). JWK006 is packed by adeno-associated virus vector that expressing ABCA4 gene.
Rod and Cone Mediated Function in Retinal Disease
Other
Background: Retinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal disease. They want to know if how well a person sees in the dark can test the severity of retinal disease. Objectives: To find out if how well a person sees in the dark can test the severity of retinal disease. To find out if this can help detect retinal disease and track its changes. Eligibility: People ages 5 and older with: Retinal disease OR 20/20 vision or better with or without correction in at least one eye Design: Participants will be screened with medical and eye history and eye exam. Those with retinal disease will also have: Eye imaging: Drops dilate the eye and pictures are taken of it. Visual field testing: Participants look into a bowl and press a button when they see light. Electroretinogram (ERG): An electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then they get numbing drops and contact lenses. Participants watch lights while retina signals are recorded. Visit 1 will be 3-8 hours. Participants will have up to 6 more visits over 6-12 months. Visits include: Eye exam and imaging Time course of dark adaptation: Participants view a background light for 5 minutes then push a button when they see colored light. Dark adapted sensitivity: Participants sit in the dark for 45 minutes. They push a button when they see colored light. For participants with retinal disease, ERG and visual field testing ...
An Observational Study in Children and Adults With Stargardt Disease
Other
This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease progression, and to further characterize the patient population for future clinical studies.
Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration
Other
Primary Objective: To evaluate the long-term safety and tolerability of SAR422459 in patients with Stargardt's Macular Degeneration. Secondary Objective: To assess: * Safety * Biological activity
A Phase 2/3 Trial to Assess the Efficacy and Safety of OCU410ST for Stargardt Disease
Other
Phase 2/3 Pivotal Confirmatory Clinical Trial is a randomized, outcome assessor-masked, multicenter study, that will enroll fifty-one (51) subjects. Subjects will be enrolled in a 2:1 ratio to either the treatment group (n=34 subjects) or to an untreated control group (n=17 subjects). Phase 1 is complete and closed for enrollment. It was a multicenter, open-label, dose ranging/dose escalation study that enrolled 9 subjects.
A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)
Other
This Phase 1/2 study will evaluate the safety, tolerability, and preliminary efficacy of subretinal SB-007 administration to determine dose selection in subjects with Stargardt's Type 1 (STGD1). This is a multicenter study which will enroll approximately 57 subjects, followed up over a 96 week period post treatment after a single administration of SB-007.
Safety and Preliminary Efficacy of VG801 in Patients With ABCA4 Mutation-associated Retinal Dystrophy (Stargardt Disease)
Other
This is a single-arm, open-label, non-randomized, single dose-escalation, first-in-human (FIH) clinical trial to evaluate the safety and preliminary efficacy of VG801 for treatment of patients with retinal dystrophy (Stargardt disease) due to biallelic ABCA4 mutations.
Oral Metformin for Treatment of ABCA4 Retinopathy
Other
Background: ABCA4 retinopathy is a genetic disease in which the ABCA4 protein is absent or faulty. It can cause waste material to collect in the eye and may cause cells to die. The cell death can lead to vision loss. Researchers want to see if an oral drug called metformin can help. Objective: To see if metformin is safe and possibly helps to slow the rate of ABCA4 retinopathy. Eligibility: People age 12 and older who have ABCA4 retinopathy and have problems with their vision. Design: Participants will be screened under a separate protocol. Participants will have a medical and family history. They will complete a questionnaire about their vision and daily activities. They will have a physical exam. They may have blood drawn through a needle in the arm. Participants will have an eye exam. Their pupils may be dilated with eye drops. Their retina may be photographed. Participants will have a visual field test. They will sit in front of a large dome and press a button when they see a light within the dome. Participants will have an electroretinogram. It examines the function of the retina. They will sit in the dark for 30 minutes. Then their eyes will be numbed with eye drops. They will wear contact lenses that can sense signals from the retinas. They will watch flashing lights. Participants will have optical coherence tomography. This non-invasive procedure makes pictures of the retina. Participants will have fundus autofluorescence. A bright blue light will be shone into their eye. Participants will take metformin by mouth for 24 months. Participants will have study visits every 6 months. Participation will last for at least 36 months....
Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR)
Other
This study is an open-label, single ascending dose clinical trial in participants who have ABCA4-related retinopathies. This is the first-in-human clinical trial in which ACDN-01 will be evaluated for safety, tolerability, and preliminary efficacy following a single subretinal injection of ACDN-01.
A Phase 2/3 Study to Evaluate the Efficacy and Safety of Tinlarebant in Subjects With Stargardt Disease
Other
The goal of this clinical trial is to evaluate the safety, tolerability, and efficacy of tinlarebant in subjects with Stargardt Disease
Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)
Other
The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease. This study is an extension of NCT02402660 and enrolls participants who are at least 8 years old. Enrollment is by invitation only. Funding Source - FDA OOPD
Function and Imaging Assessments for G1961E-associated Stargardt Disease
Other
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials
Other
This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.
An Expanded Clinical Study Evaluating the AAV2-RPE65 Gene Therapy(LX101) in Patients With LCA
Other
To evaluate the scaling clinical trail of AAV2-RPE65 gene therapy agent (LX101) in patients with congenital amaurosis (LCA).
Inherited Retinal Degenerative Disease Registry
Other
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
Other
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects with Leber's Congenital Amaurosis (LCA) due to the CEP290 p.Cys998X mutation after 24 months of treatment
Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
Other
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutations in RPE65 gene.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Other
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
Gene Therapy
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl). At least twenty-four subjects, three years of age or older, will be recruited. The intervention group will receive AAV2-hRPE65v2 at either The Children's Hospital of Philadelphia or University of Iowa to determine if it improves visual and retinal function in individuals with RPE65 gene mutations.
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
Other
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\>G (p.Cys998X) mutation in the CEP290.
Psychotherapy Group for Parents of Children With LCA
Other
The objectives of this study are to evaluate the effect of a group psychotherapy intervention for parents of children/adolescents with LCA on indicators of emotional health, parental stress, acceptance, cognitive defusion, and mindfulness. The study design is a repeated measures design with pre-, post-, and 3-month follow-up assessments. Forty parents of children and adolescents with LCA will be included in the sample. Twenty will participate in the psychotherapy groups, divided into 2 groups of 10 people, and 20 will be in the control group. To assess the indicators mentioned in the objective, the following questionnaires will be applied: Self-Reporting Questionnaire, Parental Stress Scale, Acceptance and Action Questionnaire, Cognitive Fusion Questionnaire, and Freiburg Mindfulness Inventory. A subsequent data analysis will be conducted to evaluate and correlate these indicators before, after, and 3 months post-intervention.
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
Gene Therapy
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber congenital amaurosis (LCA), an incurable retinal degeneration that causes severe vision loss. The proposed study is an open label, Phase I clinical trial of subretinal rAAV2-CBSB-hRPE65 administration to individuals with RPE65-associated retinal disease. Five cohorts will be included in this trial. Cohorts 1, 2 and 4 will consist of individuals 18 years of age and older. Cohorts 3 and 5 will consist of individuals between the ages of 8 and 17, inclusive. Enrollment in Cohorts 3 and 5 will begin only after confirming the safety of rAAV2-CBSB-hRPE65 administration in the older groups of participants. This trial will lead to a greater understanding of the safety and thereby potential value of gene transfer in RPE65-associated retinal disease and will have implications for other forms of retinal degenerative disease amenable to this type of intervention. The goal of this clinical trial is to determine the safety of uniocular subretinal administration of rAAV2-CBSB-hRPE65 in individuals with RPE65-associated retinal disease. Ocular and systemic toxicity will be assessed prior to and following vector administration to determine if there are adverse changes that may be associated with vector administration.
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
Other
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutationsin RPE65 gene.
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Other
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate cyclase 2D (GUCY2D) mutations (GUCY2D-LCA). Secondary Objective: To evaluate the efficacy of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with GUCY2D-LCA.
Early Check: Expanded Screening in Newborns
Other
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
Gene Therapy
The study is a follow-on to a Phase 1 dose-escalation and safety study.
Wide Field OCTA in Ocular Diseases
Other
The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function. Often, such diseases affect the noblest part of the retina, called macula. Many retinal diseases can be complicated by choroidal neovascularization which causes frequent bleeding and fluid leakage that accumulates in the subretinal and intraretinal spaces. Although the investigators know many details of each disease affecting the retina, very often the correct diagnostic framework can be complicated, given the presence of morphological elements common to the different pathologies. Similarly, predicting the effect of treatment and the patient's outcome is a constant challenge for the ophthalmologists. Most of the current research has been focused on the assessment of vascular alterations localized in the macula. However, growing evidence highlight the importance of peripheral vascular changes on the outcome of retinal diseases. These changes can be detected only be wide field OCT devices. On the other hand, ocular inflammation and hyperemia represent major assessments in anterior segment disorders, such as dry eye disease. The current grading systems of ocular inflammation, redness and hyperemia are characterized by several limitations, thus making these evaluations still mainly confined to the subjective assessment performed by the ophthalmologist. However, the new generation OCT devices may include also an anterior segment module which can reconstruct anterior segment vessels, non-invasively, using the same technology described for retinal diseases. The main goal of the study is to evaluate the diagnostic contribution of a new generation wide field OCTA device in ocular diseases, which has recently received CE marking. In particular, the investigators will evaluate this new generation device both in retinal and anterior segments diseases, testing for common poi
Experimental and Clinical Studies of Retinal Stimulation
Other
The study will evaluate new methods of retinal stimulation and training with the goal of improving the visual ability of retinal prosthesis participants.
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
Other
Inherited Retinal Diseases (IRDs) are a heterogeneous group of genetically based degenerative retinal disorders, representing a major cause of visual impairment and blindness in working-age adults. Despite the approval of the first gene therapy for RPE65-related IRD (voretigene neparvovec) in 2017, most IRDs remain untreatable, though many gene therapies are in development. Effective trial design and therapy development require a deep understanding of disease natural history and genotype-phenotype correlations. Over 270 IRD-associated genes are known (e.g., ABCA4, USH2A, RPGR, PRPH2, BEST1), each linked to distinct phenotypes and clinical progression. This retrospective study analyzes clinical, functional, and imaging data (Optical Coherence Tomography, Fundus Autofluorescence, Microperimetry) from a large, genetically characterized IRD cohort at the IRCCS Ospedale San Raffaele up to December 31, 2025. The aims are to describe natural history, define genotype-phenotype relationships, and identify structural and functional outcome measures useful for future clinical trial endpoints, supporting personalized prognosis and trial design.
Study of BEST1 Vitelliform Macular Dystrophy
Other
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy. The blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene. As new treatments are developed, a clear understanding of the natural history of disease progression of BEST1 VMD is necessary. The goals of this natural history study are to: 1. Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s). 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD. 3. Compare progression of the identified structural and functional measures between the two eyes to judge the suitability of the second untreated eye as a control for a future clinical trial involving unilateral treatment 4. Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.
A Long-Term Follow-Up Study in Subjects Who Received vMCO-I Administered Via Intravitreal Injection
Gene Therapy
This study "A Long-Term Follow-Up Study in Subjects Who Received an Adeno-Associated Viral Vector Serotype 2 Containing the Multi-Characteristic Opsin Gene (vMCO-I) Administered Via Intravitreal Injection" is an observational study and will be conducted following Good Clinical Practice (GCP)- International Conference on Harmonization (ICH) guidelines. Eligible subjects satisfying all inclusion and none of the exclusion criteria will be enrolled. All subject who completed the parent clinical study (NSCT/CT/18/01) will undergo safety and efficacy assessments up to 5 years post study drug injection
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Gene Therapy
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject. The study is a non-interventional, follow-up study of subjects who participated in previous AAV2-hRPE65v2 gene therapy clinical trials.
Safety and Efficacy of Stem Cell Small Extracellular Vesicles in Patients With Retinitis Pigmentosa
Other
The aim of this clinical trials is to evaluate the safety and efficacy of intravitreal injection of GMP-compliant BM-MSC-derived sEVs in patients with retinitis pigmentosa.
Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene
Other
The goal of this phase 1 clinical trial is to learn about the safety and efficacy of a gene therapy, VG901, in patients with a rare disorder of the eye called Retinitis Pigmentosa. The main questions the study aims to answer are: * What is the best tolerated dose and are there any side effects, in particular any inflammatory reactions post drug administration? * Are there any early signs of efficacy on visual function? Participants will be administered a single intravitreal dose of VG901 into the most affected eye through a syringe and followed up for a year to monitor safety and efficacy. There will be two cohorts of participants in this study. Study Cohort 1 will receive the low dose and Study Cohort 2 will receive the high dose as specified in the Protocol.
Natural History Study of Retinitis Pigmentosa Type 11
Other
Observational study of patients with retinitis pigmentosa type 11
CNS10-NPC for the Treatment of RP
Other
The investigator is examining the safety of transplanting cells into the subretinal space of patients with Retinitis Pigmentosa (RP). The cells are called neural progenitor cells, which are a type of stem cell that can become several different types of cells in the nervous system. These cells have been derived to specifically become astrocytes, which is a type of neuronal cell. The cells are called "CNS10-NPC." The investigational treatment has been tested in animals, but it has not yet been tested in people. In this study, the investigators want to learn if CNS10-NPC cells are safe to transplant into the subretinal space of people.
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
Gene Therapy
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
Rate of Progression in EYS Related Retinal Degeneration
Other
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures for clinical trials.
Early Genetic Identification of Obesity
Gene Therapy
TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS) NUMBER OF PARTICIPANTS: 1000 for initial genetic sequencing and app. 40 for the follow-up documentation COORDINATING INVESTIGATOR: Prof. Dr. Arndt Rolfs
Safety and Efficacy of ZVS203e in the Treatment of Retinitis Pigmentosa Caused by RHO Gene Mutation
Other
This trial employs a single-arm, open-label seamless Phase I/II design, consisting of two stages: Phase I dose exploration and Phase II dose expansion.The primary objective of this trial is to evaluate the safety, tolerability, and efficacy of subretinal injection of ZVS203e solution.
A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
Gene Therapy
The purpose of the study is to assess the safety and tolerability of bilateral subretinal delivery of adeno-associated virus vector with a serotype 5 capsid human rhodopsin kinase promoter. retinitis pigmentosa guanosine triphosphatase regulator (AAV5-hRKp.RPGR).
Retinal Imaging in Patients With Inherited Retinal Degenerations
Other
The purpose of this study is to determine whether the structure and function of the human retina can be studied with high resolution in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO).
A Phase I/II Dose-escalating Study of the Safety, Tolerability and Efficacy of KIO-301 Administered Intravitreally to Patients With Retinitis Pigmentosa and Choroideremia (ABACUS)
Other
A phase I/II dose-escalating study of the safety, tolerability and efficacy of KIO-301 administered intravitreally to patients with retinitis pigmentosa and choroideremia (ABACUS).
Clinical Registry Investigating Bardet-Biedl Syndrome
Other
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments. Marshfield Clinic has developed the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to gather comprehensive health information from patients diagnosed with BBS in a single repository. This information will be used to inform patients, families, and physicians about the complex features of BBS and will serve as a platform for researchers to develop effective and targeted treatment strategies for patients with BBS. CRIBBS is a web-based, confidential database and the privacy of patients enrolled in the registry will always be respected. Information maintained in the database will be identifiable only by an assigned study identification number, not by name. The registry strictly complies with HIPAA regulations. CRIBBS participants may be contacted periodically with information regarding clinical trials or research studies, but participation is entirely voluntary. CRIBBS will bring together complex genetic and clinical information from BBS patients to accelerate research into effective treatments, attract additional researchers, and make it easier for researchers to identify patients and find funding for innovative studies.
Longitudinal Study of a Bionic Eye
Other
This is a longitudinal observational study with participants who have been implanted with the suprachoroidal retinal prosthesis.
Oral N-acetylcysteine for Retinitis Pigmentosa
Other
Retinitis pigmentosa (RP) is an inherited retinal degeneration caused by one of several mistakes in the genetic code. Such mistakes are called mutations. The mutations cause degeneration of rod photoreceptors which are responsible for vision in dim illumination resulting in night blindness. After rod photoreceptors are eliminated, gradual degeneration of cone photoreceptors occurs resulting in gradual constriction of side vision that eventually causes tunnel vision. Oxidative stress contributes to cone degeneration. N-acetylcysteine (NAC) reduces oxidative stress and in animal models of RP it slowed cone degeneration. In a phase I clinical trial in patients with RP, NAC taken by month for 6 months caused some small improvements in two different vision tests suggesting that long-term administration of NAC might slow cone degeneration in RP. NAC Attack is a clinical trial being conducted at many institutions in the US, Canada, and Europe designed to determine if taking NAC for several years provides benefit in patients with RP.
Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
Other
A clinical trial of gene therapy for patients with X-linked retinitis pigmentosa (XLRP).
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Other
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, presents at birth with profound sensorineural hearing loss, vestibular areflexia, and early-onset retinal degeneration. Biallelic mutations in the MYO7A gene, which define the USH1B subtype, account for 70% of USH1 cases. There is currently no treatment available for this serious condition. The objective of the study is to characterize the natural history of retinal degeneration in USH1B patients and to validate functional vision tests using virtual reality and patient-reported outcome questionnaires.
A Phase 2 Open-label Study to Evaluate the Safety of Laruparetigene Zovaparvovec Administered Bilaterally in Male Participants With X-Linked Retinitis Pigmentosa
Gene Therapy
The purpose of this Phase 2 Study is to see if the investigational study drug, laruparetigene zovaparvovec, also known as AGTC-501, given in both eyes, is safe and works to preserve and/or improve vision and other symptoms of XLRP.
A Follow-on Study for Second-Eye Treatment for Participants Previously Treated With Gene Therapy for X-Linked Retinitis Pigmentosa (XLRP)
Gene Therapy
The purpose of this study is to assess the safety and tolerability of subretinal delivery of Adeno-associated Virus Vector (AAV5 hRKp.RPGR) gene therapy in adults and children with X-linked retinitis pigmentosa.
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Other
The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene. This is a multicenter Double-masked, Randomized, Sham-controlled study which will enroll 81 subjects.
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Other
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.
Impact of Capsular Tension Ring on Intraocular Lens Position in Retinitis Pigmentosa Cataract Patients
Other
This is a self-controlled randomized clinical trial to investigate the effect of capsular tension ring (CTR) implantation on intraocular lens (IOL) position in cataract patients with retinitis pigmentosa(RP). Each patient will receive CTR implantation in one eye, with the fellow eye serving as control. Postoperative outcomes, including visual acuity, IOL position, and postoperative complications will be compared between eyes.
Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa
Gene Therapy
The objective of this study is to evaluate the safety and tolerability of escalating doses of a gene therapy called GS030-DP (injected study treatment) administered via a single intravitreal injection and repeated light stimulation using a medical device called GS030-MD (stimulating glasses) in subjects with documented diagnosis of non-syndromic Retinitis Pigmentosa
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
Other
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101). To document prospective eye pathology in the above subjects Investigators will also conduct a Natural History Study (OCU400-104)i This is a multicenter study, which will be conducted in two phases and will enroll up to a total of 24 subjects in the OCU400-101 and 100 subjects in the OCU400-104 study.
A Study to Investigate the Safety of DSP-3077 After a Unilateral Eye Injection in Male and Female Participants 18 Years of Age or Older With Retinitis Pigmentosa
Other
The Goal of this study is to evaluate the safety, tolerability, and clinical responses following single dose of DSP-3077. Study enrolls both male and female patients in 3 cohorts with each cohort defined by visual acuity (VA) criteria and dose level of DSP-3077. Each cohort will include 4 participants.
Functional Assessments in Vision Impairment
Other
The aim of the research project is to validate the use of a novel functional assessment tool designed to document how participants with a vision impairment complete activities of daily living in a real world environment.
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Other
Study OpCT-001-101 is a Phase 1/2a first-in-human, multisite, 2-part interventional study to evaluate the safety, tolerability, and the effect on clinical outcomes of OpCT-001 in up to approximately 54 adults with primary photoreceptor (PR) disease. Phase 1 will focus on safety and features a dose-escalation design. Phase 2 is designed to gather additional safety data and assess the effect of OpCT-001 on measures of visual function, functional vision, and anatomic measures of engraftment in different clinical subgroups.
CNGB1 and Allied Disorders
Other
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.
Implementation and Evaluation of a Post-Diagnostic Announcement Protocol at the CRMR RefeRet, Quinze-Vingts Hospital
Other
This study explores whether adding early nurse-led and psychological support after the diagnosis of retinitis pigmentosa (RP) can improve patient experience and emotional well-being. RP is a rare, progressive eye disease often diagnosed after a long and difficult process, and receiving the diagnosis can be emotionally distressing. Eighty newly diagnosed adults will be randomly assigned to either usual care or an enhanced pathway that includes early follow-up with a nurse, structured emotional monitoring, and a psychologist visit at six months. The study aims to determine if this structured support improves patient satisfaction and reduces anxiety and depression compared with standard care.
A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
Other
This is a Phase 1/2 repeat-dose, open-label, two-arm, parallel group safety and efficacy study of two doses of VP-001 (30 μg and 75 μg) in participants with confirmed PRPF31 mutation-associated retinal dystrophy, including participants previously treated with VP001 in the PLATYPUS Study or WALLABY Study for a minimum of 8 weeks.
Stem Cell Ophthalmology Treatment Study II
Other
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
Gene Therapy
A clinical trial of AAV5-hRKp.RPGR vector for participants with X-linked retinitis pigmentosa (XLRP)
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
Other
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.
Biomarkers in Retinitis Pigmentosa
Other
The objective of this study is to discover biomarkers that demonstrate a correlation between the severity of retinitis pigmentosa (RP) and the thickness of the retinal pigment epithelium (RPE). These biomarkers will serve as prognostic indicators for various kinds of retinitis pigmentosa. The objective of this study is to find biomarkers that establish a correlation between the severity of retinitis pigmentosa and the thickness of the retinal pigment epithelium (RPE), which can serve as a prognostic indicator for Retinitis Pigmentosa.
Intravitreal Adalimumab in Inherited and Degenerative Retinal Diseases
Other
This prospective, comparative pilot study investigates the safety and functional outcomes of intravitreal adalimumab (ADA) in patients with Retinitis Pigmentosa (RP) and Extensive Macular Atrophy with Pseudodrusen-like Appearance (EMAP). Participants will receive three intravitreal injections of adalimumab (2 mg/0.05 mL) at two-month intervals (M0, M2, M4). The primary objective is to assess functional changes after 6 months, focusing on visual-field preservation (Field Preservation Deviation Index - FPDI, Mean Deviation - MD) and best-corrected visual acuity (LogMAR). Secondary outcomes include alterations in 30-Hz flicker ERG amplitude, OCT parameters (central macular thickness and ellipsoid zone length), and ocular safety measures such as intraocular pressure and inflammatory response.
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
Other
This study will examine the safety and efficacy of NPI-001 Tablets as compared to placebo for 24 months in subjects with vision loss due to RP associated with Usher syndrome.
Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy
Cell Therapy
This pilot study is to determine whether it would be safe and feasible to inject CD34+ stem cells from bone marrow into the eye as treatment for patients who are irreversibly blind from various retinal conditions.
24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Other
The goal of this clinical trial is to learn if NPI-001 works to prevent progression of retinitis pigmentosa in adults diagnosed with Usher syndrome. It will also provide information about the safety of NPI-001. The main questions it aims to answer are: Does NPI-001 slow down the loss of photoreceptors? What medical problems do participants have when taking NPI-001? Researchers will compare NPI-001 to a placebo (a look-alike substance that contains no drug) to see if NPI-001 works to preserve vision. Participants will: Take NPI-001 or a placebo twice a day, every day for 24 months Visit the clinic 9 times for checkups and tests
Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
Other
Summary of the Study This clinical trial evaluates a novel peptide-based therapy for treating retinal dystrophies, age-related macular degeneration (AMD), and diabetic retinopathy (DR). The therapy consists of peptides derived from fetal tissues, mesenchymal stem cells (MSCs), and bioactive growth factors, administered sublingually for systemic absorption. Study Objectives: Primary Objectives: Assess safety and tolerability, and evaluate the therapy's effects on retinal function and structure. Secondary Objectives: Explore improvements in visual acuity, retinal thickness, vascular health, and disease biomarkers. Study Design: Type: Open-label, single-arm interventional study. Duration: 12 months. Participants: 150 adults, divided into three cohorts: Retinal dystrophies. AMD (dry and wet forms). DR (moderate NPDR and PDR). Intervention: A sublingual solution containing peptides and growth factors, taken 4 times daily. Outcome Measures: Primary Outcomes: Safety (adverse events) and tolerability (treatment adherence). Secondary Outcomes: Functional: Visual acuity and field sensitivity improvements. Structural: Retinal thickness and vascular health. Biomarkers: Serum VEGF, oxidative stress, and inflammatory markers. Study Procedures: Monthly follow-ups for safety monitoring, vision tests, retinal imaging (OCT, FA), and blood biomarker analysis. Comprehensive evaluations at baseline, 6 months, and 12 months. Significance: The study aims to provide an innovative, non-invasive treatment for debilitating retinal conditions, potentially improving vision and retinal health through systemic therapy.
BS01 in Patients With Retinitis Pigmentosa
Other
A Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP (AAV2-CAG-ChronosFP) in Patients with Retinitis Pigmentosa
A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
Other
This is a Phase 3 study to Assess the Efficacy, Safety and Tolerability of OCU400 in patients with retinitis pigmentosa (RP) associated with RHO mutations and patients with any other RP associated mutation with a clinical phenotype of RP. This is a multicenter, assessor blinded and randomized study which will enroll 150 subjects.
Natural History Study of Usher Syndrome ( Light4Deaf )
Other
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
Natural History Study of Patients With EYS-Associated RP
Other
This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories will accelerate the development of outcome measures for clinical trials. Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development of treatments for retinitis pigmentosa due to EYS mutations. This approach helps to develop experimental treatment protocol, and assessing its effectiveness. The goals and expected impact of this natural history study are to: 1. Describe the natural history of retinal degeneration in patients with biallelic mutations in EYS gene in Russia and former CIS territories. 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal degeneration in Russia and former CIS territories. 3. Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration in Russia and former CIS territories.
A Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With XLRP
Gene Therapy
This study will evaluate and compare the safety, efficacy, and tolerability of 2 doses of a recombinant adeno-associated virus vector (AGTC-501/laruparetigene zovaparvovec )) to an untreated control group in male participants with X-linked retinitis pigmentosa caused by RPGR mutations.
A Prospective, Observational Study in Adults With Retinitis Pigmentosa (RP)
Other
The natural history in individuals with severe retinitis pigmentosa (RP) is variable and there remains an unmet need to better understand disease progression in this population. The goal of this study is to determine which visual assessments individuals with RP and low visual acuity can reliably perform and to evaluate the annual decline of visual function in severe RP.
About This Data
Trial data is automatically retrieved from the ClinicalTrials.gov v2 REST API and refreshed daily at 6 AM UTC. The sync engine queries for active, recruiting, and not-yet-recruiting trials across 10 IRD conditions. When a new trial is detected, an informational article is automatically generated and published to the News section.
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