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
Comprehensive knowledge of a disease is essential to the design and conduct of well-controlled, interventional clinical trials. Understanding of the disease state is important for identifying the patient population for a clinical trial, study duration, and selection of clinically meaningful endpoints. Observational studies play an important role in the understanding of rare diseases and facilitating effective development of potential therapies. To support clinical research, observational studies can help define the clinical features of a rare disease, rate of progression, pathophysiology, and other important factors. Further, following the course of a disease over time allows investigators to identify demographic variables, genotypic and phenotypic features, and other characteristics that may correlate with disease and outcomes in the absence of treatment. Thus, observational studies are useful in guiding the design of therapeutic studies, including selection of the patient population, trial duration, and the types of outcome measures to evaluate efficacy and safety. Results of a natural history study evaluating the progression of atrophy secondary to Stargardt Disease have been published using retrospective and prospective cohorts of patients (ProgStar, Strauss et al., 2016). In summary, the current study is a prospective observational study of patients with STGD1, the aim of which is to further enhance understanding of disease progression and structural and functional markers that can be used to evaluate the efficacy and safety of therapeutic interventions, especially in light of advancements in imaging technology.
Study Type
OBSERVATIONAL
Enrollment
75
Shiley Eye Institute
San Diego, California, United States
RECRUITINGUCHealth Sue Anschutz-Rodgers Eye Center
Aurora, Colorado, United States
RECRUITINGVitreo Retinal Associates
Gainesville, Florida, United States
RECRUITINGBascom Palmer Eye Institute
Miami, Florida, United States
RECRUITINGEmory University
Atlanta, Georgia, United States
RECRUITINGWilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore, Maryland, United States
RECRUITINGMassachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States
RECRUITINGKellogg Clinical Research Center
Ann Arbor, Michigan, United States
RECRUITINGColumbia University Medical Center
New York, New York, United States
RECRUITINGCUIMC/Edward S. Harkness Eye Institute
New York, New York, United States
RECRUITING...and 10 more locations
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging
Time frame: 96 weeks
Change from baseline in ellipsoid zone (EZ) area as measured by SD-OCT
Time frame: 96 weeks
Change from baseline in BCVA using ETDRS
Time frame: 96 weeks
Change from baseline in LLVA using ETDRS
Time frame: 96 weeks
Change from baseline in retinal sensitivity based on macular microperimetry
Time frame: 96 weeks
Change from baseline in contrast sensitivity scores
Time frame: 96 weeks
Change from baseline using Patient Reported Outcome Questionnaires
Time frame: 96 weeks
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