RECRUITING

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

Conditions

Stargardt Stargardt's Disease Stargardt Disease STGD1 POLARIS Splicebio ABCA4

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official 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 ATP Binding Cassette Subfamily a Member 4 (ABCA4) Gene

Quick Facts

Study Start:2024-03-29

Study Completion:2027-02

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06435000

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:12 Years to 65 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.	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.

Inclusion Criteria

Exclusion 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.

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.

Contacts and Locations

Study Contact

SpliceBio

CONTACT

+34 934 02 04 56

info@splice.bio

Study Locations (Sites)

Shiley Eye Institute

San Diego, California, 92093

United States

UCHealth Sue Anschutz-Rodgers Eye Center

Aurora, Colorado, 80045

United States

Bascom Palmer Eye Institute

Miami, Florida, 33136

United States

Emory University

Atlanta, Georgia, 30322

United States

Wilmer Eye Institute, Johns Hopkins University MD 21287

Baltimore, Maryland, 21287

United States

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114

United States

Kellogg Clinical Research Center

Ann Arbor, Michigan, 48105

United States

Duke Eye Center

Durham, North Carolina, 27710

United States

Oregon Health & Science University

Portland, Oregon, 97239

United States

Retina Foundation of the Southwest

Dallas, Texas, 75231

United States

University of Wisconsin, Madison

Madison, Wisconsin, 53715

United States

Collaborators and Investigators

Sponsor: Splice Bio

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-03-29

Study Completion Date2027-02

Study Record Updates

Study Start Date2024-03-29

Study Completion Date2027-02

Terms related to this study

Keywords Provided by Researchers

POLARIS
Splicebio
STGD1
ABCA4

Additional Relevant MeSH Terms

Stargardt
Stargardt's Disease
Stargardt Disease
STGD1