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Study of BEST1 Vitelliform Macular Dystrophy

NCT05809635 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 52

Last updated 2025-07-30

No results posted yet for this study

Summary

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.

Conditions

Interventions

OTHER

Natural History Study

Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Sponsors & Collaborators

  • Universität Tübingen

    collaborator OTHER

  • Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

    collaborator OTHER

  • National Eye Institute (NEI)

    collaborator NIH

  • Columbia University

    lead OTHER

Principal Investigators

  • Stephen H Tsang, MD, PhD · Columbia University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-30
Primary Completion
2026-05-31
Completion
2026-05-31

Countries

  • United States
  • France
  • Germany

Study Locations

More Related Trials

Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05809635 on ClinicalTrials.gov