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
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.
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).
Participants will be selected that have a genetic and clinical diagnosis of STGD1 and fulfil all other entry criteria.
Cohort
Prospective
Not listed
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging
Change from baseline in ellipsoid zone (EZ) area as measured by SD-OCT
Change from baseline in BCVA using ETDRS
Change from baseline in LLVA using ETDRS
Change from baseline in retinal sensitivity based on macular microperimetry
