Clinical trial NCT05809635: Study of BEST1 Vitelliform Macular Dystrophy
Official title: Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Best Vitelliform Macular Dystrophy
Retinitis Pigmentosa
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Universität Tübingen
name: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
name: National Eye Institute (NEI)
First posted: 2023-04-12
Enrollment: 52
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients are expected to present to the clinic at all age groups; enrollment of subjects \<18 years of age will be obtained by informed consent in the company of a parent or legal guardian. There will also be no gender-or ethnic/racial specific inclusion criteria. The enrollment of non-English speaking subjects is not expected.

Brief 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.


Eligibility 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

Primary outcomes:
measure: Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
timeFrame: Up to 3 years
measure: Full-field electroretinogram (ERG)
timeFrame: Up to 3 years
measure: Electroocoulogram (EOG)
timeFrame: Up to 3 years
measure: Optical Coherence Tomography (OCT)
timeFrame: Up to 3 years
measure: Fundus Autofluorescence (FAF)
timeFrame: Up to 3 years
measure: Near-infrared fundus autofluorescence (NIR-AF)
timeFrame: Up to 3 years
measure: Quantitative Fundus Autofluorescence (qAF)
timeFrame: Up to 3 years
Secondary outcomes:
measure: Best-corrected Visual Acuity (BCVA)
timeFrame: Up to 3 years
measure: Color Fundus Photos
timeFrame: Up to 3 years
measure: Macular Integrity Assessment (MAIA) Microperimetry
timeFrame: Up to 3 years
measure: Goldman Kinetic Visual Field
timeFrame: Up to 3 years
measure: Light-adapted Static Perimetry
timeFrame: Up to 3 years
measure: Dark-adapted Chromatic Perimetry
timeFrame: Up to 3 years
measure: Full-field Stimulus Testing
timeFrame: Up to 3 years
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Irving Medical Center
state: New York
city: Paris
country: France
facility: Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
city: Tuebingen
country: Germany
facility: Eberhard Karls University Tubingen
Study officials:
affiliation: Columbia University
name: Stephen H Tsang, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: