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

An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

Who can join

Ages 10 to 100 · All sexes

* 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).

About the study

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....

Sponsor: National Eye Institute (NEI) · Participants: 25 · Started: Apr 19, 2022

Contact the study team

• Daniel W Claus, R.N. · Phone: (301) 451-1621
• Brett G Jeffrey, Ph.D. · Phone: (301) 402-2391

Official record on ClinicalTrials.gov — NCT04591483

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.