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

Plain-language summary

This observational study examines Stargardt-like macular dystrophy caused by mutations in the ELOVL4 gene, using ophthalmic imaging and functional testing. It enrolls participants aged 10 and older who have an ELOVL4 mutation and a typical clinical presentation. The study is a non-phase study and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

National Eye Institute (NEI)

Start date

4/19/2022

Estimated completion

7/16/2028

Countries

United States

Related genes

Locations

• Bethesda, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

* 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).