retinal dystrophy Stargardt Disease Stargardt Disease
Conditions
Interventions
observational study
Sponsors
AAVantgarde Bio
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1. Male and female subjects 8 years of age and older. 2. Willingness to adhere to the protocol as evidenced by written informed consent if the subject is 18 years or older. If the subject is under 18 years of age, written assent must be obtained from the subject and written informed consent must be obtained from the subject*s legally authorized representative (parent or legal guardian). 3. Confirmed biallelic pathogenic mutations in the ABCA4 gene. If only one ABCA4 allele contains a pathogenic or likely pathogenic mutation, the subject shall have a typical Stargardt phenotype, namely at least one eye must have flecks at the level of the RPE typical for Stargardt disease accompanied by atrophy. 4. Clear ocular media and adequate pupillary dilation to permit good quality FAF and SD-OCT imaging in the opinion of the investigator. 5. Willingness and ability to cooperate in ocular examinations.
Exclusion criteria
Exclusion criteria: Subjects will not be excluded based on their gender, race, or ethnicity. Subjects who meet any of the following criteria will not be eligible for the study: 1. History of uveitis. 2. Ocular disease such as choroidal neovascularization, retinal detachment involving the macula, glaucoma and/or diabetic retinopathy, in either eye that may confound assessment of the retina morphologically and functionally. 3. Any pathology of the posterior segment other than ABCA4 retinopathy. 4. Presence of any other genetic mutation(s) that have been associated with retinal or macular dystrophy. 5. Intraocular surgery within 6 months, ocular laser treatment within 3 months, or macular laser treatment at any time, in the cohort-specific eye prior to the baseline visit. 6. Current or previous participation in an interventional study to treat Stargardt disease such as gene therapy or stem cell therapy at any time. 7. Current participation in an investigational drug study or previous participation in an investigational drug study within 6 months prior to the baseline visit. 8. Current use of Vitamin A. 9. Refractive error outside of +6 to -8 diopters. 10. Media opacity in the cohort-specific eye likely to interfere with study imaging and ocular assessments. 11. Any systemic disease with a limited survival prognosis (e.g., cancer, severe/unstable cardiovascular disease). 12. Any other condition that would prevent the subject from completing study assessments and in the opinion of the investigator, makes the subject unsuitable for the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • Mean quantitative and qualitative changes from Baseline to Month 24 in the areas of DDAF, QDAF, and evolution of QDAF as measured by FAF imaging • Mean change from Baseline to Month 24 in retinal morphology, including loss of EZ length and area as measured by SD-OCT grading • Mean change from Baseline to Month 24 in macular sensitivity loss with emphasis on the perilesional area as measured by mesopic MP • Mean change from Baseline to Month 24 in BCVA by ETDRS letter score • Mean change from Baseline to Month 24 in static visual field testing as measured by clinic-based perimetry | — |
Secondary
| Measure | Time frame |
|---|---|
| NVT | — |
Countries
France, Italy, Netherlands, Norway, Spain, United Kingdom, United States
Contacts
Public ContactV. Bourgonje
Het Oogziekenhuis Rotterdam
Outcome results
None listed