NCT04591483 · National Eye Institute (NEI)
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
What this study 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.
View original scientific description
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....
Primary outcome measures
Growth rate in square root area of loss of the inner segment/outer segment band (EZband)
Time frame: Day 1, 182, 364, 728, 1,092
The growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from SD-OCT.
Growth rate of square root area of atrophy measured from short-wavelength autofluorescence
Time frame: Day 1, 182, 364, 728, 1,092
The rate of atrophy enlargement obtained from fundus autofluorescence.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- To be eligible, the following inclusion criteria must be met, where applicable.
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Participant must be at least ten years of age.
- Ability to perform required functional testing and ophthalmic imaging.
- A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
- Participant (or legal guardian) must understand and sign the protocol s informed consent document.
Exclusion criteria
- A participant is not eligible if any of the following exclusion criteria are present.
- Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
- Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
Where
- Bethesda, Maryland
Collaborators
National Cancer Institute (NCI)
Related conditions & keywords
Frequently asked questions
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Data: ClinicalTrials.gov · synced Jun 5, 2026 · Source of record for eligibility and locations