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 (POLARIS)
- Sponsor: SpliceBio, S.L.
- Principal Investigator: Kimberly Stepien, MD
- Study Coordinator: Nickie Stangel
Study Objective:
To evaluate disease progression, using multiple modalities, in subjects with genetically-confirmed STGD1.
Study Design:
This is a prospective, observational, non-interventional, multi-center, global clinical study of subjects with early to advanced stage STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene. The study will consist of 6 visits over a 96-week study period.
Inclusion Criteria:
Male or female aged 12-65 years old and able to understand the study procedures.
- Diagnosis of STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene confirmed genotypically by an accredited genotyping laboratory.
- History of STGD1 progression within the last 2 years, in the opinion of the investigator.
- Eligible eye(s) must have:
- BCVA of between 24-88 ETDRS letters, inclusive (20/20 – 20/320 Snellen equivalent, 0.0-1.2 logMAR) at the Screening Visit.
- Clinical evidence of a macular lesion phenotypically consistent with Stargardt Disease.
- Fundus autofluorescence (FAF) measurement of unifocal definitely decreased autofluorescence (DDAF) lesion size ≥1.75 mm2 or multifocal DDAF lesion size ≥ 0.6 mm2 as measured by the Central Reading Center (CRC).
- Total lesion size (DDAF + questionable decreased autofluorescence) ≤ 12.0 mm2 as measured by the CRC.
- Total lesion must be imaged in its entirety.
- All total lesion borders must be ≥300 microns from all image edges.
Exclusion Criteria:
- 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.
- 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).
- Unwilling to stop taking the following products at Screening and throughout the study:
- Supplements containing vitamin A or beta-carotene, liver-based products.
- Prescription oral retinoids.
- 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.
- History of amblyopia in the eligible eye(s).
Contact Nickie Stangel with questions at (608) 263-8783.