Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
ConditionStargardt-Like Macular Dystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age10-100
SponsorNational Eye Institute (NEI)
About this trial
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....
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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).
Trial population
25 patients with Stargardt-like macular dystrophy 3 who are \>= 10 years of age.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
25 Participants
are grouped into 1 trial groupGroup A: Affected
Trial outcomes
Primary outcomes
1
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.
Time frame
Day 1, 182, 364, 728, 1,0922
Growth rate of square root area of atrophy measured from short-wavelength autofluorescence
The rate of atrophy enlargement obtained from fundus autofluorescence.
Time frame
Day 1, 182, 364, 728, 1,092Secondary outcomes
1
The change in BCVA total letters read from baseline to Year 3
The change in BCVA total letters read from baseline to Year 3.
Time frame
Day 1, 182, 364, 728, 1,0922
The rate of loss of retinal sensitivity measured with perimetry
The rate of loss of retinal sensitivity measured with perimetry.
Time frame
Day 1, 182, 364, 728, 1,092Sponsors and contacts
Click on the lead sponsor to view all of their trials.
National Eye Institute (NEI)
Lead sponsor
National Cancer Institute (NCI)
Collaborator
Source ClinicalTrials.gov