Understanding the natural history of Best Vitelliform Macular Dystrophy
Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
This study looks at how Best Vitelliform Macular Dystrophy changes over time in people with the condition to help find better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 52 (estimated) |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 3 sites (New York, New York and 2 other locations) |
| Trial ID | NCT05809635 on ClinicalTrials.gov |
What this trial studies
This observational study aims to establish the natural history of Best Vitelliform Macular Dystrophy (VMD) caused by mutations in the BEST1 gene. It will involve participants diagnosed with BEST1-associated VMD, who will undergo a series of follow-up visits over three years. The study seeks to identify sensitive measures of disease progression and assess the suitability of untreated eyes as controls for future clinical trials. By documenting the progression of retinal degeneration, the study will provide valuable insights for developing new treatments.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with BEST1-associated VMD who can commit to multiple follow-up visits.
Not a fit: Patients with systemic conditions that prevent them from undergoing the necessary exams may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of disease progression and improve future treatment strategies for patients with Best Vitelliform Macular Dystrophy.
How similar studies have performed: While this study focuses on the natural history of a specific condition, similar observational studies have successfully informed treatment approaches in other retinal diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Ability to provide informed consent * Diagnosis of BEST1-associated VMD by study physician, who are trained retinal specialists in the university clinic Must be able to commit to 4 follow-up study visits (3 years) Exclusion Criteria: * Systemic condition that prevents the participant from undergoing the exams
Where this trial is running
New York, New York and 2 other locations
- Columbia University Irving Medical Center — New York, New York, United States (Recruiting)
- Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts — Paris, France (Not_yet_recruiting)
- Eberhard Karls University Tubingen — Tübingen, Germany (Recruiting)
Study contacts
- Principal investigator: Stephen H Tsang, MD, PhD — Columbia University
- Study coordinator: Stephen H Tsang, MD, PhD
- Email: sht2@cumc.columbia.edu
- Phone: 212-342-1186
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.