Actively Recruiting
Observational Study to Follow the Progression of Stargardt Disease Type 1 Caused by Bi-Allelic Mutations in the ABCA4 Gene
Led by Splice Bio · Updated on 2025-09-19
75
Participants Needed
20
Research Sites
8 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting an observational study to follow the progression of Stargardt Disease Type 1 (STGD1), which is caused by specific genetic mutations in the ABCA4 gene. The study aims to improve understanding of how the disease changes over time and to identify structural and functional markers that can help evaluate future treatments. This research is important for planning effective clinical trials and for better defining the disease's characteristics without treatment. Participants will be observed over a period of 96 weeks without receiving any study treatments. The study will use advanced imaging techniques like fundus autofluorescence and spectral-domain optical coherence tomography (SD-OCT) to document changes in retinal lesions and other eye features. Visual acuity and retinal sensitivity will also be assessed along with patient-reported outcomes to track progression comprehensively. During the study, participants will undergo regular eye exams, imaging scans, and vision tests to monitor disease changes. Researchers will measure disease progression by evaluating lesion size and other retinal features over time. These assessments will help understand the natural course of STGD1. The total duration of participation is up to 96 weeks, during which safety and disease status will be closely followed to gather detailed information about the disease.
CONDITIONS
Brief 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
- Diagnosed with STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene confirmed by an accredited laboratory
- History of STGD1 progression within the last 2 years as determined by the investigator
- Eligible eye(s) with BCVA between 24 and 88 ETDRS letters (20/20 to 20/320 Snellen equivalent) at screening
- Clinical evidence of a macular lesion consistent with Stargardt Disease
- Fundus autofluorescence showing definitely decreased autofluorescence measured by the Central Reading Center
- Total lesion must be fully imaged with all borders at least 300 microns from image edges
- Eligible eye(s) must have clear ocular media and adequate pupil dilation without allergy to dilating drops to allow quality retinal imaging
You will not qualify if you...
- Immediate family member of the Sponsor or study site personnel
- Any concurrent eye disease affecting study procedures or outcomes (e.g., cataracts unless surgery was successful at least 90 days prior) in eligible eyes
- Presence of other pathogenic variants in inherited retinal dystrophy genes not related to STGD1
- Intraocular surgery or thermal laser within 90 days before study entry or prior thermal laser in the macular region of eligible eye(s)
- Major surgery within 30 days before screening or planned major surgery during the study
- Unwillingness to stop taking vitamin A or beta-carotene supplements, liver-based products, or prescription oral retinoids at screening and throughout the study
- Participation in investigational therapy within 90 days or 5 half-lives before screening; previous gene therapy, stem cell therapy, retinal chip implants, or eye injections exclude participation
- Known serious allergies to fluorescein dye, ocular dilating drops, or topical ocular anesthetics or history of anaphylaxis
- History of amblyopia in eligible eye(s)
- Any significant ocular or non-ocular disease or conditions that may risk safety or affect study results or participation ability as judged by the investigator and Medical Monitor
AI-Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Approximately 96 weeks
Participants are observed over time to document disease progression and changes in structural and functional markers without receiving any intervention.
Multiple visits over 96 weeks for assessments including imaging and vision tests
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
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
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