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Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

Recruitingn/aAges 10 Years - 100 YearsAllNational Eye Institute (NEI)
NCT04591483 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 pupil

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable. 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Participant must be at least ten years of age. 3. Ability to perform required functional testing and ophthalmic imaging. 4. A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy. 5. 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. 1. Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1. 2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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