NCT04591483 Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
| NCT ID | NCT04591483 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Eye Institute (NEI) |
| Condition | Stargardt-Like Macular Dystrophy |
| Study Type | OBSERVATIONAL |
| Enrollment | 25 participants |
| Start Date | 2022-04-19 |
| Primary Completion | 2028-07-16 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 25 participants in total. It began in 2022-04-19 with a primary completion date of 2028-07-16.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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....
Eligibility Criteria
* 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).
Contact & Investigator
Brett G Jeffrey, Ph.D.
PRINCIPAL INVESTIGATOR
National Eye Institute (NEI)
Frequently Asked Questions
Who can join the NCT04591483 clinical trial?
This trial is open to participants of all sexes, aged 10 Years or older, up to 100 Years, studying Stargardt-Like Macular Dystrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04591483 currently recruiting?
Yes, NCT04591483 is actively recruiting participants. Contact the research team at daniel.claus@nih.gov for enrollment information.
Where is the NCT04591483 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT04591483 clinical trial?
NCT04591483 is sponsored by National Eye Institute (NEI). The principal investigator is Brett G Jeffrey, Ph.D. at National Eye Institute (NEI). The trial plans to enroll 25 participants.