Actively Recruiting
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Led by National Eye Institute (NEI) · Updated on 2026-04-20
25
Participants Needed
1
Research Sites
325 weeks
Total Duration
On this page
Sponsors
N
National Eye Institute (NEI)
Lead Sponsor
N
National Cancer Institute (NCI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Background: STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level. Objective: To understand the natural history of changes in the retina that occur in people with STDG3. Eligibility: People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene. Design: Participants will have 6 visits. First they will have a screening visit, followed by a baseline visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours. Visits will include the following: Medical history and physical exam. Complete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye. Questions about participants' family history, especially the presence of eye disease. Visual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome. Electroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights. Optical coherence tomography. Cross-sectional pictures will be taken of participants' retinas. Fundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....
CONDITIONS
Official Title
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to follow all study procedures and be available for the entire study duration
- At least 10 years old
- Able to perform required eye tests and imaging
- Have a mutation in the ELOVL4 gene with typical Stargardt-like macular dystrophy
- Understand and sign informed consent (or legal guardian consent)
You will not qualify if you...
- Having two or more mutations in ABCA4 or one mutation in RDS/peripherin or PROM1
- Medical conditions rarely linked to ELOVL4, such as Spinocerebellar Ataxia-34
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Daniel W Claus, R.N.
CONTACT
B
Brett G Jeffrey, Ph.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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