Understanding the natural history of Best Vitelliform Macular Dystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Columbia University Irving Medical Center
  New York, New York, United States Recruiting
• Eberhard Karls University Tubingen
  Tübingen, Germany Recruiting
• Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
  Paris, France Not yet 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.