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
NCT ID: NCT06435000
Last Updated: 2025-09-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
75 participants
OBSERVATIONAL
2024-03-29
2027-02-28
Brief Summary
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This is a multicenter study which will enroll approximately 75 subjects
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Detailed Description
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Observational studies play an important role in the understanding of rare diseases and facilitating effective development of potential therapies. To support clinical research, observational studies can help define the clinical features of a rare disease, rate of progression, pathophysiology, and other important factors. Further, following the course of a disease over time allows investigators to identify demographic variables, genotypic and phenotypic features, and other characteristics that may correlate with disease and outcomes in the absence of treatment. Thus, observational studies are useful in guiding the design of therapeutic studies, including selection of the patient population, trial duration, and the types of outcome measures to evaluate efficacy and safety.
Results of a natural history study evaluating the progression of atrophy secondary to Stargardt Disease have been published using retrospective and prospective cohorts of patients (ProgStar, Strauss et al., 2016).
In summary, the current study is a prospective observational study of patients with STGD1, the aim of which is to further enhance understanding of disease progression and structural and functional markers that can be used to evaluate the efficacy and safety of therapeutic interventions, especially in light of advancements in imaging technology.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
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
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.
12 Years
65 Years
ALL
No
Sponsors
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Splice Bio
INDUSTRY
Responsible Party
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Locations
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Shiley Eye Institute
San Diego, California, United States
UCHealth Sue Anschutz-Rodgers Eye Center
Aurora, Colorado, United States
Vitreo Retinal Associates
Gainesville, Florida, United States
Bascom Palmer Eye Institute
Miami, Florida, United States
Emory University
Atlanta, Georgia, United States
Wilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore, Maryland, United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States
Kellogg Clinical Research Center
Ann Arbor, Michigan, United States
Columbia University Medical Center
New York, New York, United States
CUIMC/Edward S. Harkness Eye Institute
New York, New York, United States
Duke Eye Center
Durham, North Carolina, United States
Oregon Health & Science University
Portland, Oregon, United States
Retina Foundation of the Southwest
Dallas, Texas, United States
University of Wisconsin, Madison
Madison, Wisconsin, United States
Universitätsklinikum Bonn, Klinik für Augenheilkunde
Bonn, , Germany
University Eye Hospital Tübingen
Tübingen, , Germany
Moorfields Eye Hospital
London, London, United Kingdom
Leeds Teaching Hospitals NHS Trust
Leeds, , United Kingdom
University of Manchester - The Old St Mary's Hospital
Manchester, , United Kingdom
Oxford Eye Hospital
Oxford, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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Center for Clinical Research
Role: primary
OUH under the Eye Research Group Oxford
Role: primary
Related Links
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SpliceBio
Other Identifiers
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SB-CS-001
Identifier Type: -
Identifier Source: org_study_id
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