Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
NCT ID: NCT04591483
Last Updated: 2025-10-02
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
25 participants
OBSERVATIONAL
2022-04-19
2028-07-16
Brief Summary
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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....
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Detailed Description
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Study Description: Potential therapeutics for Stargardt-like macular dystrophy (STDG3) have been proposed. Cross-sectional studies of large families suggest progressive macular atrophy in STDG3 but there is a paucity of longitudinal data for these patients. The overall goal is to establish a natural history study of STDG3.
Objectives: The primary objective is to assess the longitudinal changes in retinal structure in STDG3 patients.
The secondary objective is to assess the longitudinal changes in retinal function in STDG3 patients.
An exploratory objective is to assess the longitudinal changes in functional vision and the participant s perceived effect on activities of daily living (e.g., mobility).
Endpoints: The primary endpoints are: A) the growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from spectral-domain optical coherence tomography (SD-OCT) and B) the rate of atrophy enlargement obtained from fundus autofluorescence
The secondary endpoints are: A) the change in BCVA total letters read from baseline to Year 3 and B) the rate of loss of retinal sensitivity measured with perimetry
Study Population: Up to 25 patients with Stargardt-like macular dystrophy 3 who are \>= 10 years of age.
Description of Sites/Facilities Enrolling Participants: Patients will be seen in the Ophthalmic Genetics Clinic at the National Eye Institute within the NIH Clinical Center in Bethesda.
Study Duration: 84 months (7 years).
Participant Duration: 36 months (3 years).
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Affected
Patients with Stargardt-like macular dystrophy 3 who are \>= 10 years of age.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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
2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
10 Years
100 Years
ALL
No
Sponsors
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National Cancer Institute (NCI)
NIH
National Eye Institute (NEI)
NIH
Responsible Party
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Principal Investigators
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Brett G Jeffrey, Ph.D.
Role: PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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000108-EI
Identifier Type: -
Identifier Source: secondary_id
10000108
Identifier Type: -
Identifier Source: org_study_id
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