Actively Recruiting
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
Led by Splice Bio · Updated on 2025-09-19
75
Participants Needed
20
Research Sites
148 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
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
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Provide written consent
- Male or female aged 12 to 65 years old
- Diagnosis of STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene confirmed by a certified laboratory
- History of STGD1 progression within the last 2 years as judged by the investigator
- Eligible eyes must have best corrected visual acuity between 24 and 88 ETDRS letters (20/20 to 20/320 Snellen equivalent)
- Clinical signs of macular lesions consistent with Stargardt Disease
- Fundus autofluorescence measurement showing definitely decreased autofluorescence as confirmed by the Central Reading Center
- Total lesion fully imaged with lesion borders at least 300 microns from image edges
- Eligible eyes must have clear ocular media and allow good quality retinal imaging with pupil dilation
You will not qualify if you...
- Immediate family members of the Sponsor or study site personnel
- Any other eye disease affecting study procedures or outcomes (e.g., cataracts; enrollment allowed 90 days after cataract surgery)
- Presence of other likely pathogenic variants in retinal dystrophy genes not related to STGD1
- Intraocular surgery or thermal laser treatment within 90 days before study entry, or prior thermal laser in the macular region
- Major surgery within 30 days before screening or planned during the study
- Unwillingness to stop vitamin A, beta-carotene, liver-based supplements, or prescription oral retinoids during the study
- Participation in investigational therapy within 90 days or 5 half-lives prior to screening; any history of gene therapy, stem cell therapy, retinal chip implantation, or eye injections
- Known serious allergies to fluorescein dye, eye drops used for dilation or anesthesia, or history of anaphylaxis
- History of amblyopia in eligible eyes
- Any significant medical condition or abnormal lab test that may increase risk or affect study participation or results, as judged by the investigator and Medical Monitor
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 20 locations
1
Shiley Eye Institute
San Diego, California, United States, 92093
Actively Recruiting
2
UCHealth Sue Anschutz-Rodgers Eye Center
Aurora, Colorado, United States, 80045
Actively Recruiting
3
Vitreo Retinal Associates
Gainesville, Florida, United States, 32607
Actively Recruiting
4
Bascom Palmer Eye Institute
Miami, Florida, United States, 33136
Actively Recruiting
5
Emory University
Atlanta, Georgia, United States, 30322
Actively Recruiting
6
Wilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore, Maryland, United States, 21287
Actively Recruiting
7
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114
Actively Recruiting
8
Kellogg Clinical Research Center
Ann Arbor, Michigan, United States, 48105
Actively Recruiting
9
Columbia University Medical Center
New York, New York, United States, 10032
Actively Recruiting
10
CUIMC/Edward S. Harkness Eye Institute
New York, New York, United States, 10032
Actively Recruiting
11
Duke Eye Center
Durham, North Carolina, United States, 27710
Actively Recruiting
12
Oregon Health & Science University
Portland, Oregon, United States, 97239
Actively Recruiting
13
Retina Foundation of the Southwest
Dallas, Texas, United States, 75231
Actively Recruiting
14
University of Wisconsin, Madison
Madison, Wisconsin, United States, 53715
Actively Recruiting
15
Universitätsklinikum Bonn, Klinik für Augenheilkunde
Bonn, Germany, 53127
Actively Recruiting
16
University Eye Hospital Tübingen
Tübingen, Germany, 72076
Actively Recruiting
17
Moorfields Eye Hospital
London, London, United Kingdom, EC1V 2PD
Actively Recruiting
18
Leeds Teaching Hospitals NHS Trust
Leeds, United Kingdom, LS9 7T
Actively Recruiting
19
University of Manchester - The Old St Mary's Hospital
Manchester, United Kingdom, M13 9WL
Actively Recruiting
20
Oxford Eye Hospital
Oxford, United Kingdom, OX3 9DU
Actively Recruiting
Research Team
S
SpliceBio
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here