Best Vitelliform Macular DystrophyNCT05809635
Study of BEST1 Vitelliform Macular Dystrophy
An observational study of Best Vitelliform Macular Dystrophy and Retinitis Pigmentosa, run by Columbia University at 3 sites in 3 countries.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Best Vitelliform Macular Dystrophy, Retinitis Pigmentosa
- What is being tested?
- Natural History Study
- How many people
- 52 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 30 Mar 2021to 31 May 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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)
Who cannot join
- Systemic condition that prevents the participant from undergoing the exams
Trial locations and contacts
3 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 3 countries
United States1 site, 1 recruiting
- Recruiting
Columbia University Irving Medical Center
New York, New York, 10032
Stephen H Tsang, MD, PhD, 212-342-1186, sht2@columbia.edu
France1 site, 1 recruiting
- Not yet recruiting
Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
Paris
Isabelle Audo, MD, PhD, +33 1 40 02 14 30, isabelle.audo@inserm.fr
Camille Andrieu, MD, +33 1 40 02 14 51, candrieu@15-20.fr
Germany1 site, 1 recruiting
- Recruiting
Eberhard Karls University Tubingen
Tübingen
Laura Kuehlewein, MD, +49 07071 29-88088, laura.kuehlewein@med.uni-tuebingen.de
Katarina Stingl, MD, +49 7071 29 87421, katarina.stingl@med.uni-tuebingen.de
About this study
Official title: Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
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.
Read more
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:
- Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).
- Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.
- 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
- Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.
- Being tested
- Natural History Study
- Medical subject headings
- Vitelliform Macular Dystrophy, Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural History StudyOther
Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy
| Study group | Role | What they receive |
|---|---|---|
| Best Vitelliform Macular Dystrophy (VMD) Participants | Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene Receives: Other: Natural History Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
Measured: Up to 3 years
Full-field electroretinogram (ERG)
ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.
Measured: Up to 3 years
Electroocoulogram (EOG)
EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol
Measured: Up to 3 years
Optical Coherence Tomography (OCT)
Measured: Up to 3 years
Fundus Autofluorescence (FAF)
Measured: Up to 3 years
Near-infrared fundus autofluorescence (NIR-AF)
Measured: Up to 3 years
Quantitative Fundus Autofluorescence (qAF)
Measured: Up to 3 years
Secondary outcomes (7)
Best-corrected Visual Acuity (BCVA)
Measured: Up to 3 years
Color Fundus Photos
Measured: Up to 3 years
Macular Integrity Assessment (MAIA) Microperimetry
Measured: Up to 3 years
Goldman Kinetic Visual Field
Measured: Up to 3 years
Light-adapted Static Perimetry
Measured: Up to 3 years
Dark-adapted Chromatic Perimetry
Measured: Up to 3 years
Full-field Stimulus Testing
Measured: Up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Apr 2023
- Study start30 Mar 2021
- Primary completion31 May 2026 (estimated)
- Study completion31 May 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Best Vitelliform Macular DystrophyStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 52 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Universität Tübingen, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Eye Institute (NEI)
- Responsible party
- Principal investigator, Stephen H. Tsang, Columbia University
- Investigators
- Stephen H Tsang, MD, PhD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05809635
- Sponsor's protocol ID
- AAAT5994
- Other IDs
- R24EY028758
- Status last verified
- Jul 2025
- First submitted
- 30 Mar 2023
- Last updated
- 30 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
- ClinicalTrials.gov ID
- NCT05809635
- Acronym / sponsor ID
- AAAT5994
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 52 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Universität Tübingen, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Eye Institute (NEI)
- Study start
- 30 Mar 2021 (actual)
- Primary completion
- 31 May 2026 (estimated)
- Study completion
- 31 May 2026 (estimated)
- First posted
- 12 Apr 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).
- Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.
- 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
- Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Best Vitelliform Macular Dystrophy (VMD) Participants | – | Other: Natural History StudyParticipants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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)
Key exclusion criteria (1 listed)
- Systemic condition that prevents the participant from undergoing the exams
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural History StudyLongitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy | Other | Best Vitelliform Macular Dystrophy (VMD) Participants |
Primary outcome
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
Time frame: Up to 3 years
Full-field electroretinogram (ERG)
Time frame: Up to 3 years
ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.
Electroocoulogram (EOG)
Time frame: Up to 3 years
EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol
Optical Coherence Tomography (OCT)
Time frame: Up to 3 years
Fundus Autofluorescence (FAF)
Time frame: Up to 3 years
Near-infrared fundus autofluorescence (NIR-AF)
Time frame: Up to 3 years
Quantitative Fundus Autofluorescence (qAF)
Time frame: Up to 3 years
7 secondary outcomes
Best-corrected Visual Acuity (BCVA)
Time frame: Up to 3 years
Color Fundus Photos
Time frame: Up to 3 years
Macular Integrity Assessment (MAIA) Microperimetry
Time frame: Up to 3 years
Goldman Kinetic Visual Field
Time frame: Up to 3 years
Light-adapted Static Perimetry
Time frame: Up to 3 years
Dark-adapted Chromatic Perimetry
Time frame: Up to 3 years
Full-field Stimulus Testing
Time frame: Up to 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jul 2025.
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National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stephen H Tsang, MD, PhD principal investigator
Columbia University
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Best Vitelliform Macular Dystrophy and Retinitis Pigmentosa, run by Columbia University at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, France, Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Stephen H Tsang, MD, PhD (212-342-1186, sht2@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter (time frame: Up to 3 years). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jul 2025.