ClearSight, an IRD research hub, is excited to share news of a promising new clinical trial that could bring significant hope to individuals living with Best Vitelliform Macular Dystrophy (BVMD) and Autosomal-Recessive Bestrophinopathy (ARB). Opus Genetics, Inc. has announced the launch of a Phase 1 clinical trial (NCT07185256) to investigate the safety and efficacy of their investigational gene therapy, OPGx-BEST1.
Understanding Bestrophinopathies: A Challenge to Vision
Bestrophinopathies are a group of inherited retinal diseases caused by mutations in the BEST1 gene. This gene is crucial for the proper function of retinal pigment epithelial (RPE) cells, which are vital for maintaining the health of photoreceptor cells – the light-sensing cells in our eyes. When the BEST1 gene malfunctions, it leads to the accumulation of waste products beneath the retina, forming characteristic yellow lesions (vitelliform lesions) that can progressively impair central vision.
BVMD, often presenting in childhood or adolescence, and ARB, a more severe form that typically manifests earlier and can lead to more profound vision loss, are the primary conditions targeted by this new therapy. Currently, there are no approved treatments that directly address the underlying genetic cause of these conditions, making the development of therapies like OPGx-BEST1 critically important.
OPGx-BEST1: A Targeted Gene Therapy Approach
OPGx-BEST1 is designed as a gene therapy, meaning it aims to deliver a healthy copy of the BEST1 gene directly into the RPE cells of the retina. The hope is that by providing functional BEST1 gene, the therapy can restore normal RPE function, prevent further disease progression, and potentially even improve vision. The investigational drug will be delivered via a subretinal injection, a precise surgical procedure that places the therapy directly into the space between the retina and the RPE layer, ensuring it reaches the target cells.
What the Trial Aims to Achieve
This Phase 1 clinical trial is primarily focused on evaluating the safety and tolerability of a single subretinal injection of OPGx-BEST1. This is a crucial first step for any new therapy, ensuring that the treatment itself does not cause undue harm to patients. Researchers will closely monitor participants for any adverse events or side effects over a five-year period following the injection.
A secondary, but equally important, objective is to identify the most appropriate dose strength of OPGx-BEST1 for future clinical development. Finding the optimal dose that is both safe and potentially effective is key to moving forward with larger trials.
Finally, the trial will also begin to evaluate the efficacy of OPGx-BEST1. While Phase 1 trials are not primarily designed to prove effectiveness, researchers will be looking for early signs of visual improvement or stabilization, and other markers of disease modification, over the five-year follow-up period.
Who Can Participate?
The trial is currently recruiting participants who have been diagnosed with either Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB). Specific eligibility criteria will be detailed by the clinical sites, but generally involve a confirmed genetic diagnosis of a BEST1 gene mutation and certain levels of remaining vision. Interested individuals are encouraged to discuss their eligibility with their ophthalmologist and the clinical trial sites.
Timeline and Locations
The trial is projected to begin on September 25, 2025. It will be conducted at two leading medical centers in the United States: Los Angeles, CA, and Dallas, TX. These locations will provide specialized care and expertise for participants throughout the study duration.
What Would Success Mean?
Successful outcomes from this trial would be transformative for the Bestrophinopathy community. If OPGx-BEST1 proves to be safe, well-tolerated, and shows promising signs of efficacy, it could pave the way for larger, pivotal clinical trials. Ultimately, a successful therapy could offer a way to halt or slow the progression of vision loss, and potentially even restore some vision, significantly improving the quality of life for individuals affected by these debilitating inherited retinal diseases. This trial represents a significant step forward in the quest for effective treatments for Bestrophinopathies.
Key Facts:
- NCT ID: NCT07185256
- Title: Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)
- Condition: Best Vitelliform Macular Dystrophy (BVMD), Autosomal-Recessive Bestrophinopathy (ARB)
- Phase: Phase 1
- Status: Recruiting
- Sponsor: Opus Genetics, Inc.
- Start Date: September 25, 2025
- Intervention: OPGx-BEST1 (gene therapy)
- Locations: Los Angeles, United States | Dallas, United States
- ClinicalTrials.gov Link: https://clinicaltrials.gov/study/NCT07185256
Disclaimer: This article is for informational purposes only and is based on publicly available information from ClinicalTrials.gov. ClearSight is an independent IRD research hub and is not affiliated with Opus Genetics, Inc. or the clinical trial mentioned herein. Patients should consult with their healthcare providers for medical advice and to determine their eligibility for any clinical trials.