Observational Study Tracking Progression of Stargardt Disease Type 1 Caused by ABCA4 Gene Mutations in Patients Aged 12 to 65

What this Trial Is About

Researchers are conducting an observational study to follow the progression of Stargardt Disease Type 1 STGD1, which is caused by specific genetic mutations in the ABCA4 gene. The study aims to improve understanding of how the disease changes over time and to identify structural and functional markers that can help evaluate future treatments. This research is important for planning effective clinical trials and for better defining the diseases characteristics without treatment. Participants will be observed over a period of 96 weeks without receiving any study treatments. The study will use advanced imaging techniques like fundus autofluorescence and spectral-domain optical coherence tomography SD-OCT to document changes in retinal lesions and other eye features. Visual acuity and retinal sensitivity will also be assessed along with patient-reported outcomes to track progression comprehensively. During the study, participants will undergo regular eye exams, imaging scans, and vision tests to monitor disease changes. Researchers will measure disease progression by evaluating lesion size and other retinal features over time. These assessments will help understand the natural course of STGD1. The total duration of participation is up to 96 weeks, during which safety and disease status will be closely followed to gather detailed information about the disease.

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