ClearSight, your trusted resource for IRD research, is highlighting an important clinical study that promises to significantly advance our understanding of congenital muscle diseases. Titled 'Congenital Muscle Disease Study of Patient and Family Reported Medical Information' (NCT01403402), this initiative is a beacon of hope for individuals and families navigating the challenges of these rare conditions.
What is This Study Testing?
At its core, the Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal, 10-year observational study. It's not testing a new drug or treatment, but rather focusing on collecting comprehensive, real-world data directly from patients and their families. The primary goal is to identify and track 'care parameters' – essentially, the types of medical care and support individuals receive – and 'adverse events' – any unwanted or unexpected medical problems that arise. This information is gathered through the Congenital Muscle Disease International Registry (CMDIR), which serves as a central hub for patient data.
This study encompasses a remarkably broad spectrum of congenital muscle diseases, reflecting the diverse and often complex nature of these conditions. This includes, but is not limited to: various forms of Alpha-Dystroglycanopathy (such as Fukuyama CMD, Muscle Eye Brain Disease, and Walker Warburg Syndrome), Collagen VI and XII Related Disorders, Emery-Dreifuss Muscular Dystrophy, LMNA Related Disorders, Merosin Deficient CMD, and many types of Limb-Girdle Muscular Dystrophy (including those related to FKRP, POMT1, FKTN, and other genes). By including such a wide range of conditions, researchers hope to identify commonalities, differences, and unique challenges across the congenital muscle disease landscape.
Why Does This Study Matter for Patients?
For patients and their families, this study is incredibly important. Congenital muscle diseases are often rare, and comprehensive, long-term data on their progression, care needs, and associated complications can be scarce. By systematically collecting patient- and family-reported information, researchers can gain invaluable insights into the natural history of these diseases. This data is crucial for:
- Improving Diagnosis and Management: A better understanding of symptoms, disease progression, and common complications can lead to earlier and more accurate diagnoses, as well as more effective management strategies.
- Informing Clinical Trial Design: Detailed information on adverse events and care parameters can help researchers design future interventional clinical trials that are more relevant and impactful for patients.
- Advocacy and Resource Allocation: Robust data strengthens advocacy efforts, helping to secure funding for research, develop specialized clinics, and ensure access to necessary therapies and support services.
- Empowering Patients: By contributing their experiences, participants directly shape the future of understanding and treating these conditions, giving a voice to the patient community.
Who Can Participate?
The study is currently 'Recruiting' and is open to individuals affected by congenital muscular dystrophy. To participate, individuals or their proxies (family members or caregivers) need to register with the Congenital Muscle Disease International Registry (CMDIR) by visiting www.cmdir.org. The beauty of this study is its accessibility: there is no travel required, making it easy for patients from various locations to contribute their valuable information.
Timeline of the Study
This is a long-term commitment to understanding. The study officially started in September 2009 and is designed to run for a full decade, tracking participants over time. This extended timeframe allows researchers to observe the long-term effects of these diseases and the impact of different care approaches.
What Would Success Mean?
Success for the CMDPROS study would mean a significantly enhanced understanding of congenital muscle diseases. This includes:
- Clearer Care Guidelines: The identification of best practices and common challenges in managing these conditions, leading to improved clinical guidelines.
- Identification of Biomarkers: While not directly testing biomarkers, the collected data could highlight patterns that lead to the discovery of new biomarkers for disease progression or treatment response.
- New Therapeutic Targets: A deeper insight into the disease mechanisms and patient experiences could point towards novel targets for drug development.
- A Stronger Patient Community: By centralizing data and experiences, the study fosters a more informed and empowered patient community, better equipped to advocate for their needs.
This study, sponsored by Cure CMD, represents a collaborative effort to shed light on a group of challenging conditions. By participating, individuals can play a direct role in shaping future research and improving the lives of those affected by congenital muscle diseases.
Key Facts
- NCT ID: NCT01403402
- Title: Congenital Muscle Disease Study of Patient and Family Reported Medical Information
- Conditions: A wide range of congenital muscular dystrophies and related disorders.
- Phase: N/A (Observational Study)
- Status: Recruiting
- Sponsor: Cure CMD
- Start Date: September 2009
- Duration: 10 years (longitudinal study)
- Participation: Register at www.cmdir.org; no travel required.
- Purpose: To identify and trend care parameters and adverse events using patient-reported data.
Disclaimer: This article is for informational purposes only and is based on publicly available information from ClinicalTrials.gov. ClearSight is not affiliated with the clinical trial or its sponsors. Please consult with a healthcare professional for medical advice and before making any decisions related to your health or treatment.