Clinical Trials in the UK / NCT06435000
Recruiting
Observational
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 · tracked via the Priya Life Science UK tracker
Condition(s) studied
StargardtStargardt's DiseaseStargardt DiseaseSTGD1
Study 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
Eligibility
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.
Primary outcome measure(s)
- Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging — 96 weeks
Trial sites (20)
| Facility | City | Region | Status |
|---|---|---|---|
| Shiley Eye Institute | San Diego | California | Recruiting |
| UCHealth Sue Anschutz-Rodgers Eye Center | Aurora | Colorado | Recruiting |
| Vitreo Retinal Associates | Gainesville | Florida | Recruiting |
| Bascom Palmer Eye Institute | Miami | Florida | Recruiting |
| Emory University | Atlanta | Georgia | Recruiting |
| Wilmer Eye Institute, Johns Hopkins University MD 21287 | Baltimore | Maryland | Recruiting |
| Massachusetts Eye and Ear Infirmary | Boston | Massachusetts | Recruiting |
| Kellogg Clinical Research Center | Ann Arbor | Michigan | Recruiting |
| Columbia University Medical Center | New York | New York | Recruiting |
| CUIMC/Edward S. Harkness Eye Institute | New York | New York | Recruiting |
| Duke Eye Center | Durham | North Carolina | Recruiting |
| Oregon Health & Science University | Portland | Oregon | Recruiting |
| Retina Foundation of the Southwest | Dallas | Texas | Recruiting |
| University of Wisconsin, Madison | Madison | Wisconsin | Recruiting |
| Universitätsklinikum Bonn, Klinik für Augenheilkunde | Bonn | Germany | Recruiting |
| University Eye Hospital Tübingen | Tübingen | Germany | Recruiting |
| Moorfields Eye Hospital | London | London | Recruiting |
| Leeds Teaching Hospitals NHS Trust | Leeds | United Kingdom | Recruiting |
| University of Manchester - The Old St Mary's Hospital | Manchester | United Kingdom | Recruiting |
| Oxford Eye Hospital | Oxford | United Kingdom | Recruiting |
Other trials for the same condition
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT06435000 on ClinicalTrials.gov ↗ ← All trials in the UK