Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
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|ClinicalTrials.gov Identifier: NCT04591483|
Recruitment Status : Recruiting
First Posted : October 19, 2020
Last Update Posted : November 26, 2020
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.
To understand the natural history of changes in the retina that occur in people with STDG3.
People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.
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....
|Condition or disease|
|Stargardt-Like Macular Dystrophy|
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 :||Observational|
|Estimated Enrollment :||25 participants|
|Official Title:||An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4|
|Estimated Study Start Date :||December 1, 2020|
|Estimated Primary Completion Date :||July 16, 2025|
|Estimated Study Completion Date :||July 16, 2025|
Patients with Stargardt-like macular dystrophy3 who are >= 10 years of age.
- 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.
- 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.
- 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.
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04591483
|Contact: Brett G Jeffrey, Ph.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Brett G Jeffrey, Ph.D.||National Eye Institute (NEI)|