An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is a multicenter study which will enroll approximately 75 subjects
Eligibility
Sex
ALL
Min age
12 Years
Max age
65 Years
Healthy volunteers
No
Inclusion Criteria:
1. Provide written consent
2. Are male or female aged 12-65 years old
3. Have a diagnosis of STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene confirmed genotypically by an accredited genotyping laboratory
4. Have a history of STGD1 progression within the last 2 years, in the opinion of the investigator.
5. Eligible eye(s) must have:
1. BCVA of between 24-88 ETDRS letters, inclusive (20/20 - 20/320 Snellen equivalent, 0.0-1.2 logMAR) at the Screening Visit.
2. Clinical evidence of a macular lesion phenotypically consistent with Stargardt Disease.
3. Fundus autofluorescence (FAF) measurement of definitely decreased autofluorescence (DDAF) as measured by the Central Reading Center (CRC).
4. Total lesion must be imaged in its entirety.
5. All total lesion borders must be ≥300 microns from all image edges.
6. Eligible eye(s) must have clear ocular media and adequate pupillary dilation, including no allergy to dilating eyedrops, to permit good quality retinal imaging.
Exclusion Criteria:
1. Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.
2. Have any concurrent ocular disease that would affect study procedures or outcomes (e.g., cataracts; subjects can be enrolled 90 days after successful cataract surgery) in eligible eyes.
3. Have two likely pathogenic or pathogenic variants (not STGD1) in autosomal recessive inherited retinal dystrophy (IRD) genes or a single likely pathogenic or pathogenic variant in autosomal dominant or X-linked IRD genes.
4. Have had any intraocular surgery or thermal laser within 90 days of study entry or any prior thermal laser in the macular region within the eligible eye(s).
5. Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the study period.
6. Are unwilling to stop taking the following products at Screening and throughout the study:
1. Supplements containing vitamin A or beta-carotene, liver-based products.
2. Prescription oral retinoids.
7. Have actively participated in an investigational therapy study or have received any investigational therapy within 90 days of the Screening Visit or 5 half-lives, whichever is longer. Note: any ophthalmic history of gene therapy, stem cell therapy, surgical implantation of prosthetic retinal chips, or intravitreal or sub-retinal injections exclude the subject from study participation.
8. Have known serious allergies to the fluorescein dye that might be used to measure intraocular pressure (IOP), ocular dilating drops, topical ocular anesthetic, or any history of anaphylaxis reaction.
9. Have a history of amblyopia in the eligible eye(s).
10. Have any significant ocular or non-ocular disease/disorder (or medication and/or laboratory test abnormalities) which, in the opinion of the investigator and with concurrence of the Medical Monitor, may either put the subject at risk because of participation in the study, may influence the results of the study, or affect the subject's ability to participate in the study.
Primary outcome measure(s)
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging — 96 weeks
Trial sites (20)
Facility
City
Region
Status
Shiley Eye Institute
San Diego
California
Recruiting
UCHealth Sue Anschutz-Rodgers Eye Center
Aurora
Colorado
Recruiting
Vitreo Retinal Associates
Gainesville
Florida
Recruiting
Bascom Palmer Eye Institute
Miami
Florida
Recruiting
Emory University
Atlanta
Georgia
Recruiting
Wilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore
Maryland
Recruiting
Massachusetts Eye and Ear Infirmary
Boston
Massachusetts
Recruiting
Kellogg Clinical Research Center
Ann Arbor
Michigan
Recruiting
Columbia University Medical Center
New York
New York
Recruiting
CUIMC/Edward S. Harkness Eye Institute
New York
New York
Recruiting
Duke Eye Center
Durham
North Carolina
Recruiting
Oregon Health & Science University
Portland
Oregon
Recruiting
Retina Foundation of the Southwest
Dallas
Texas
Recruiting
University of Wisconsin, Madison
Madison
Wisconsin
Recruiting
Universitätsklinikum Bonn, Klinik für Augenheilkunde
Bonn
Germany
Recruiting
University Eye Hospital Tübingen
Tübingen
Germany
Recruiting
Moorfields Eye Hospital
London
London
Recruiting
Leeds Teaching Hospitals NHS Trust
Leeds
United Kingdom
Recruiting
University of Manchester - The Old St Mary's Hospital
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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