Recruiting

Observational Study

Sponsor:

Splice Bio

Code:

NCT06435000

Conditions

Stargardt

Stargardt's Disease

Stargardt Disease

STGD1

Eligibility Criteria

Sex: All

Age: 12 - 65

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT06435000

Start date

Mar 29, 2024

Status verified date

Aug, 2025

Completion date

Feb, 2027

Anticipated

Primary completion date

Dec, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 12 - 65

Healthy Volunteers: Not accepted

Inclusion Criteria:

1. Provide written consent
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:

1. Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.
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.

Study Design

Enrollment

75 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging [ Time Frame: 96 weeks ]

Central Contacts and Locations

Locations

Shiley Eye Institute

Recruiting

San Diego, California, United States, 92093

Principal Investigator:

Site 108

UCHealth Sue Anschutz-Rodgers Eye Center

Recruiting

Aurora, Colorado, United States, 80045

Principal Investigator:

Site 109

Vitreo Retinal Associates

Recruiting

Gainesville, Florida, United States, 32607

Principal Investigator:

Site 114

Bascom Palmer Eye Institute

Recruiting

Miami, Florida, United States, 33136

Principal Investigator:

Site 104

Emory University

Recruiting

Atlanta, Georgia, United States, 30322

Principal Investigator:

Site 107

Wilmer Eye Institute, Johns Hopkins University MD 21287

Recruiting

Baltimore, Maryland, United States, 21287

Principal Investigator:

Site 111

Massachusetts Eye and Ear Infirmary

Recruiting

Boston, Massachusetts, United States, 02114

Principal Investigator:

Site 105

Kellogg Clinical Research Center

Recruiting

Ann Arbor, Michigan, United States, 48105

Principal Investigator:

Site 106

Columbia University Medical Center

Recruiting

New York, New York, United States, 10032

Principal Investigator:

Site 113

CUIMC/Edward S. Harkness Eye Institute

Recruiting

New York, New York, United States, 10032

Principal Investigator:

Site 112

Duke Eye Center

Recruiting

Durham, North Carolina, United States, 27710

Principal Investigator:

Site 110

Oregon Health & Science University

Recruiting

Portland, Oregon, United States, 97239

Principal Investigator:

Site 103

Retina Foundation of the Southwest

Recruiting

Dallas, Texas, United States, 75231

Principal Investigator:

Site 102

University of Wisconsin, Madison

Recruiting

Madison, Wisconsin, United States, 53715

Principal Investigator:

Site 101

More Information

Sponsor

Splice Bio

Last update posted

Sep 19, 2025

Last verified

Aug, 2025

Keywords

  • POLARIS
  • Splicebio
  • STGD1
  • ABCA4

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Splice Bio on 2025-09-19.