Abstract
Purpose :
Stargardt disease (SD) is a rare, blinding inherited macular dystrophy that most commonly affects children and young adults. Evidence in the literature suggests that children and adolescents presenting with SD (Early-Onset Stargardt Disease, EOSD) progress faster to severe retinal degeneration than patients developing the disease in adulthood. Currently, there is lack of a clear definition for this early-onset population and a scarcity of real world data describing the disease progression in early-onset patients from the first onset of symptoms. The purpose of this study is to better define and describe the natural history of EOSD.
Methods :
This non-interventional, multinational, multicenter, retrospective chart review study will collect demographic data from SD patients including age at symptoms onset and clincal diagnosis and ABCA4 genotyping in Europe (France, Germany, UK, Italy, Spain, Denmark, and the Netherlands) and the US. For patients with EOSD, defined as onset of Stargardt symptoms in childhood, adolescence or in young adults ≤ 26 years old and at least one pathogenic mutant ABCA4 allele, additional data from the 1st recorded visit through 5 years of follow-up will be obtained to detail the course of disease progression. The primary outcome variable is the yearly rate of visual acuity progression in patients with EOSD.
Results :
Based on the results of a feasibility study approximately 140 EOSD patients are foreseen to be enrolled in this study from approximately 52 investigators sites (38 in Europe and 14 in the US). Interim data will be presented.
Conclusions :
There is no effective treatment for SD. A definition and description of the clinical course of EOSD patients will aide in the development of new therapies for SD by documenting a population with the highest disease morbidity in whom intervention would be expected to provide the greatest potential benefit and by generating evidence to support the selection of efficacy outcomes to be evaluated in future investigational clinical trials.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.