Natural History of Early Onset Stargardt Disease
Research type
Research Study
Full title
Natural History of Early Onset Stargardt Disease - Non-interventional,\nMultinational, Retrospective Chart Review Study
IRAS ID
195864
Contact name
Simona Degli Esposti
Contact email
Sponsor organisation
Sanofi
Duration of Study in the UK
0 years, 4 months, 1 days
Research summary
Stargardt Disease is the most common form of inherited juvenile Macular Degeneration which causes loss of central vision (reading problems and the inability to recognize objects) but also color vision impairment. This disease is usually diagnosed in individuals under the age of 20 when decreased central vision is first noticed. No prescription of eyeglasses can be proposed and no medical treatment exists at this point.\n\nAvailable information that leads some researchers to believe that patients who have been diagnosed with Early Onset Stargardt disease at a younger age experience a more rapid and severe retinal degeneration than patients who develop the disease later in life. However, there is not enough information available to be able to provide an accurate overview. \n\nThis study is designed to provide more information about the disease progression over time. It may help in the future to improve the management of Early Onset Stargardt disease, either in terms of potential development of a drug treatment or better supportive care. \n\nThe study will include children and adults patients with Early-Onset Stargardt Disease defined as a clinical diagnosis or initial symptoms of Stargardt presenting in childhood or early adulthood (26 years old or younger) and with confirmed pathogenic mutation on ABCA4 gene.\n \nThese Stargardt patients will be enrolled from centres with recognised expertise in the diagnosis and management of Stargardt Disease. Around 52 research centres will take part in the study across Europe and US (1 centre in UK with 3-4 patients enrolled).\n\nThis study intends to collect information existing in patient medical records on the condition and healthcare status in relation to the objective of the research. The medical information will be anonymized and abstracted only by the direct medical care physician. There will be no patient involvement in the study, informed consent will not be obtained.
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
16/NW/0569
Date of REC Opinion
26 Jul 2016
REC opinion
Favourable Opinion