- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04591483
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
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....
Study Overview
Status
Conditions
Detailed 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).
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Daniel W Claus, R.N.
- Phone Number: (301) 451-1621
- Email: daniel.claus@nih.gov
Study Contact Backup
- Name: Brett G Jeffrey, Ph.D.
- Phone Number: (301) 402-2391
- Email: jeffreybg@mail.nih.gov
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
-
Contact:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Phone Number: TTY8664111010 800-411-1222
- Email: prpl@cc.nih.gov
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- 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).
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
---|
Affected
Patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Growth rate in square root area of loss of the inner segment/outer segment band (EZband)
Time Frame: Day 1, 182, 364, 728, 1,092
|
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
Time Frame: Day 1, 182, 364, 728, 1,092
|
The rate of atrophy enlargement obtained from fundus autofluorescence.
|
Day 1, 182, 364, 728, 1,092
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
The change in BCVA total letters read from baseline to Year 3
Time Frame: Day 1, 182, 364, 728, 1,092
|
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
Time Frame: Day 1, 182, 364, 728, 1,092
|
The rate of loss of retinal sensitivity measured with perimetry.
|
Day 1, 182, 364, 728, 1,092
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Brett G Jeffrey, Ph.D., National Eye Institute (NEI)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 10000108
- 000108-EI
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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