Study of BEST1 Vitelliform Macular Dystrophy

Retinitis Pigmentosa Clinical Trial

Official title:

Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05809635
• Other study ID #: AAAT5994
• Secondary ID: R24EY028758
• Status: Recruiting
• Start date: March 30, 2021
• Est. completion date: May 31, 2025

Study information

• Verified date: April 2024
• Source: Columbia University
• Contact: Stephen H Tsang, MD, PhD
• Phone: 212-342-1186
• Email: sht2[@]cumc.columbia.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 52
• Est. completion date: May 31, 2025
• Est. primary completion date: May 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Best Vitelliform Macular Dystrophy
• Macular Degeneration
• Retinitis
• Retinitis Pigmentosa
• Vitelliform Macular Dystrophy

Intervention

Other:
• Natural History Study
Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Locations

Country	Name	City	State
France	Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts	Paris
Germany	Eberhard Karls University Tubingen	Tuebingen
United States	Columbia University Irving Medical Center	New York	New York

Sponsors (4)

Lead Sponsor	Collaborator
Columbia University	Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Eye Institute (NEI), Universität Tübingen

Countries where clinical trial is conducted

United States,  France,  Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Medmont Dark Adapted Chromatic (DAC) Automated Perimeter		Up to 3 years
Primary	Full-field electroretinogram (ERG)	ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.	Up to 3 years
Primary	Electroocoulogram (EOG)	EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol	Up to 3 years
Primary	Optical Coherence Tomography (OCT)		Up to 3 years
Primary	Fundus Autofluorescence (FAF)		Up to 3 years
Primary	Near-infrared fundus autofluorescence (NIR-AF)		Up to 3 years
Primary	Quantitative Fundus Autofluorescence (qAF)		Up to 3 years
Secondary	Best-corrected Visual Acuity (BCVA)		Up to 3 years
Secondary	Color Fundus Photos		Up to 3 years
Secondary	Macular Integrity Assessment (MAIA) Microperimetry		Up to 3 years
Secondary	Goldman Kinetic Visual Field		Up to 3 years
Secondary	Light-adapted Static Perimetry		Up to 3 years
Secondary	Dark-adapted Chromatic Perimetry		Up to 3 years
Secondary	Full-field Stimulus Testing		Up to 3 years