NCT Number: NCT04591483
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....
Interested in participating?
Request Info10 year–100 year
All sexes
Observational
Bethesda, Maryland, 20892, United States
Location status: Recruiting
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
CONTACT
800-411-1222 ext. TTY8664111010
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).
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
To be eligible, the following inclusion criteria must be met, where applicable.
Exclusion criteria
A participant is not eligible if any of the following exclusion criteria are present.
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.
Time frame: Day 1, 182, 364, 728, 1,092
The rate of atrophy enlargement obtained from fundus autofluorescence.
Time frame: Day 1, 182, 364, 728, 1,092
The change in BCVA total letters read from baseline to Year 3.
Time frame: Day 1, 182, 364, 728, 1,092
The rate of loss of retinal sensitivity measured with perimetry.
Contact information is provided by the study sponsor or research team.
Brett G Jeffrey, Ph.D.
CONTACT
Daniel W Claus, R.N.
CONTACT
National Eye Institute (NEI)
Nih
An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
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View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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