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
Start Date
3/29/2024
Completion Date
2/1/2027
Summary
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
Detailed Description
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.
Eligibility Criteria
Age Range: 12 years to 65 years
Conditions
Locations
Shiley Eye Institute
San Diego, California 92093
United States
UCHealth Sue Anschutz-Rodgers Eye Center
Aurora, Colorado 80045
United States
Vitreo Retinal Associates
Gainesville, Florida 32607
United States
Bascom Palmer Eye Institute
Miami, Florida 33136
United States
Emory University
Atlanta, Georgia 30322
United States
Wilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore, Maryland 21287
United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts 02114
United States
Kellogg Clinical Research Center
Ann Arbor, Michigan 48105
United States
Columbia University Medical Center
New York, New York 10032
United States
CUIMC/Edward S. Harkness Eye Institute
New York, New York 10032
United States
Duke Eye Center
Durham, North Carolina 27710
United States
Oregon Health & Science University
Portland, Oregon 97239
United States
Retina Foundation of the Southwest
Dallas, Texas 75231
United States
University of Wisconsin, Madison
Madison, Wisconsin 53715
United States
Universitätsklinikum Bonn, Klinik für Augenheilkunde
Bonn, 53127
Germany
University Eye Hospital Tübingen
Tübingen, 72076
Germany
Moorfields Eye Hospital
London, London EC1V 2PD
United Kingdom
Leeds Teaching Hospitals NHS Trust
Leeds, LS9 7T
United Kingdom
University of Manchester - The Old St Mary's Hospital
Manchester, M13 9WL
United Kingdom
Oxford Eye Hospital
Oxford, OX3 9DU
United Kingdom