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

  • STATUS
    Recruiting
  • End date
    Jul 16, 2025
  • participants needed
    25
  • sponsor
    National Eye Institute (NEI)
Updated on 8 August 2022

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 5 visits. First they will have a screening 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....

Description

Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

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).

Details
Condition Stargardt-Like Macular Dystrophy
Clinical Study IdentifierNCT04591483
SponsorNational Eye Institute (NEI)
Last Modified on8 August 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

To be eligible, the following inclusion criteria must be met, where
applicable
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

Exclusion Criteria

A participant is not eligible if any of the following exclusion criteria are
present
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)
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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