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

NCT04591483 | Recruiting

• 2 other identifiers: 10000108000108-EI
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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

Keywords

ABCA4; Oral Metformin; Natural History

Outcome Measures

Primary Outcomes (2)

• Growth rate in square root area of loss of the inner segment/outer segment band (EZband)

  The growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from SD-OCT.

  Day 1, 182, 364, 728, 1,092

• Growth rate of square root area of atrophy measured from short-wavelength autofluorescence

  The rate of atrophy enlargement obtained from fundus autofluorescence.

  Day 1, 182, 364, 728, 1,092

Secondary Outcomes (2)

• The change in BCVA total letters read from baseline to Year 3

  Day 1, 182, 364, 728, 1,092

• The rate of loss of retinal sensitivity measured with perimetry

  Day 1, 182, 364, 728, 1,092

Study Arms (1)

Affected

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

Eligibility Criteria

• Age: 10 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Participant must be at least ten years of age.
• Ability to perform required functional testing and ophthalmic imaging.
• A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
• Participant (or legal guardian) must understand and sign the protocol s informed consent document.

You may not qualify if:

• Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
• Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).

Sponsors & Collaborators

• National Eye Institute (NEI): lead
• National Cancer Institute (NCI): collaborator

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Brett G Jeffrey, Ph.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Daniel W Claus, R.N.

CONTACT

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

Brett G Jeffrey, Ph.D.

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2020
• First Posted: October 19, 2020
• Study Start: April 19, 2022
• Primary Completion (Estimated): July 16, 2028
• Study Completion (Estimated): July 16, 2028
• Last Updated: May 22, 2026

Record last verified: 2026-05-20

Locations

US (1)