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

Recruiting now

Conditions studied: Stargardt, Stargardt's Disease, Stargardt Disease, STGD1

In brief

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

Key facts

Study ID: NCT06435000
Run by: Splice Bio
People needed: 75
Starts: 2024-03-29
Expected to finish: 2027-02-01
Last updated by the study team: 2025-09-19

Who can join

Age: 12 and older, up to 65. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Provide written consent
Are male or female aged 12-65 years old
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
Have a history of STGD1 progression within the last 2 years, in the opinion of the investigator.
Eligible eye(s) must have:
BCVA of between 24-88 ETDRS letters, inclusive (20/20 - 20/320 Snellen equivalent, 0.0-1.2 logMAR) at the Screening Visit.
Clinical evidence of a macular lesion phenotypically consistent with Stargardt Disease.
Fundus autofluorescence (FAF) measurement of definitely decreased autofluorescence (DDAF) as measured by the Central Reading Center (CRC).
Total lesion must be imaged in its entirety.
All total lesion borders must be ≥300 microns from all image edges.
Eligible eye(s) must have clear ocular media and adequate pupillary dilation, including no allergy to dilating eyedrops, to permit good quality retinal imaging.

You may not qualify if…

Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.
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.
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.
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).
Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the study period.
Are unwilling to stop taking the following products at Screening and throughout the study:
Supplements containing vitamin A or beta-carotene, liver-based products.
Prescription oral retinoids.
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.
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.
Have a history of amblyopia in the eligible eye(s).
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.

Where it is running

Shiley Eye Institute — San Diego, California, United States (enrolling)
UCHealth Sue Anschutz-Rodgers Eye Center — Aurora, Colorado, United States (enrolling)
Vitreo Retinal Associates — Gainesville, Florida, United States (enrolling)
Bascom Palmer Eye Institute — Miami, Florida, United States (enrolling)
Emory University — Atlanta, Georgia, United States (enrolling)
Wilmer Eye Institute, Johns Hopkins University MD 21287 — Baltimore, Maryland, United States (enrolling)
Massachusetts Eye and Ear Infirmary — Boston, Massachusetts, United States (enrolling)
Kellogg Clinical Research Center — Ann Arbor, Michigan, United States (enrolling)
Columbia University Medical Center — New York, New York, United States (enrolling)
CUIMC/Edward S. Harkness Eye Institute — New York, New York, United States (enrolling)
Duke Eye Center — Durham, North Carolina, United States (enrolling)
Oregon Health & Science University — Portland, Oregon, United States (enrolling)
Retina Foundation of the Southwest — Dallas, Texas, United States (enrolling)
University of Wisconsin, Madison — Madison, Wisconsin, United States (enrolling)
Universitätsklinikum Bonn, Klinik für Augenheilkunde — Bonn, Germany (enrolling)
University Eye Hospital Tübingen — Tübingen, Germany (enrolling)
Moorfields Eye Hospital — London, London, United Kingdom (enrolling)
Leeds Teaching Hospitals NHS Trust — Leeds, United Kingdom (enrolling)
University of Manchester - The Old St Mary's Hospital — Manchester, United Kingdom (enrolling)
Oxford Eye Hospital — Oxford, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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