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

NCT04591483 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2026-05-22

No results posted yet for this study

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

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    collaborator NIH

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Brett G Jeffrey, Ph.D. · National Eye Institute (NEI)

Eligibility

Min Age
10 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-04-19
Primary Completion
2028-07-16
Completion
2028-07-16

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04591483 on ClinicalTrials.gov