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

NCT06435000 | Recruiting

• 1 other identifier: SB-CS-001
• Study Type: observational
• Target: 75
• Locations: 3 countries
• Sites: 20

Brief Summary

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

Stargardt; Stargardt's Disease; Stargardt Disease; STGD1

Keywords

POLARIS; Splicebio; STGD1; ABCA4

Outcome Measures

Primary Outcomes (1)

• Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging

  96 weeks

Secondary Outcomes (6)

• Change from baseline in ellipsoid zone (EZ) area as measured by SD-OCT

  96 weeks

• Change from baseline in BCVA using ETDRS

  96 weeks

• Change from baseline in LLVA using ETDRS

  96 weeks

• Change from baseline in retinal sensitivity based on macular microperimetry

  96 weeks

• Change from baseline in contrast sensitivity scores

  96 weeks

Eligibility Criteria

• Age: 12 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be selected that have a genetic and clinical diagnosis of STGD1 and fulfil all other entry criteria.

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.

Sponsors & Collaborators

• Splice Bio: lead

Study Sites (20)

Shiley Eye Institute

San Diego, California, 92093, United States

RECRUITING

UCHealth Sue Anschutz-Rodgers Eye Center

Aurora, Colorado, 80045, United States

RECRUITING

Vitreo Retinal Associates

Gainesville, Florida, 32607, United States

RECRUITING

Bascom Palmer Eye Institute

Miami, Florida, 33136, United States

RECRUITING

Emory University

Atlanta, Georgia, 30322, United States

RECRUITING

Wilmer Eye Institute, Johns Hopkins University MD 21287

Baltimore, Maryland, 21287, United States

RECRUITING

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114, United States

RECRUITING

Kellogg Clinical Research Center

Ann Arbor, Michigan, 48105, United States

RECRUITING

Columbia University Medical Center

New York, New York, 10032, United States

RECRUITING

CUIMC/Edward S. Harkness Eye Institute

New York, New York, 10032, United States

RECRUITING

Duke Eye Center

Durham, North Carolina, 27710, United States

RECRUITING

Oregon Health & Science University

Portland, Oregon, 97239, United States

RECRUITING

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

RECRUITING

University of Wisconsin, Madison

Madison, Wisconsin, 53715, United States

RECRUITING

Universitätsklinikum Bonn, Klinik für Augenheilkunde

Bonn, 53127, Germany

RECRUITING

University Eye Hospital Tübingen

Tübingen, 72076, Germany

RECRUITING

Moorfields Eye Hospital

London, London, EC1V 2PD, United Kingdom

RECRUITING

Leeds Teaching Hospitals NHS Trust

Leeds, LS9 7T, United Kingdom

RECRUITING

University of Manchester - The Old St Mary's Hospital

Manchester, M13 9WL, United Kingdom

RECRUITING

Oxford Eye Hospital

Oxford, OX3 9DU, United Kingdom

RECRUITING

Related Links

• SpliceBio

Biospecimen

Retention: SAMPLES WITH DNA

Buccal saliva swab to determine a minimum of two pathogenic or likely pathogenic mutations in the ABCA4 gene to genetically confirm the disease, as per eligibility criteria

MeSH Terms

Conditions

Stargardt Disease

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Macular Degeneration; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

SpliceBio

CONTACT

+34 934 02 04 56; clinicaltrials@splice.bio

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2024
• First Posted: May 30, 2024
• Study Start: March 29, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): February 1, 2027
• Last Updated: September 19, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (4); US (14); DE (2)