Recruiting

Observational Study

Sponsor:

National Eye Institute (NEI)

Code:

NCT04591483

Conditions

Stargardt-Like Macular Dystrophy

Eligibility Criteria

Sex: All

Age: 10 - 70+

Healthy Volunteers: Not accepted

Study Details

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....

Conditions

Stargardt-Like Macular Dystrophy

Study ID

NCT04591483

Start date

Apr 19, 2022

Status verified date

Jun 3, 2026

Completion date

Jul 16, 2028

Anticipated

Primary completion date

Jul 16, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 10 - 70+

Healthy Volunteers: Not accepted

  • 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).

Study Design

Enrollment

25 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected

Patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.

Primary outcome measure

  • 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 ]
  • Growth rate of square root area of atrophy measured from short-wavelength autofluorescence [ Time Frame: Day 1, 182, 364, 728, 1,092 ]

Central Contacts and Locations

Central contacts

Daniel W Claus, R.N.

(301) 451-1621daniel.claus@nih.gov

Brett G Jeffrey, Ph.D.

(301) 402-2391jeffreybg@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

National Eye Institute (NEI)

Last update posted

Jun 5, 2026

Last verified

Jun 3, 2026

Keywords

  • ABCA4
  • Oral Metformin
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Eye Institute (NEI) on 2026-06-05.