The Global Angelman Syndrome Registry is a project designed ultimately to benefit individuals diagnosed with Angelman syndrome and those working to create a new future.
The Registry is powered by the parents and caregivers of individuals diagnosed with Angelman syndrome, driving the collection of data by answering questions on their experiences with diagnosis, medical history, behaviour and development and more in a series of online modules.
The Registry is a tool for cataloguing symptoms and medications and plotting the developmental trajectories in Angelman syndrome and provides an invaluable resource to anyone interested in advancing understanding, research or clinical trials.
The Registry provides the perfect mechanism to analyse, recruit and measure the effectiveness of interventions.
The Global Angelman Syndrome Registry arose from a need for a large collection of accessible data on the rare neurogenetic disorder Angelman syndrome (AS). AS affects approximately 1:15000. Although it is anticipated to affect about 500,000 worldwide some professionals may only treat a one or small number of individuals with the syndrome and may have little or no experience in management. In higher populated areas families may have access to Angelman Syndrome Clinics, notably in the United States, where clinician recorded data has been collected both in clinic and as part of a Natural History Study.
As with many other syndromes, individual’s symptoms can vary enormously, wide scale data collection is required to both understand the heterogeneity and developmental trajectories of those who are unable to be seen in a clinic setting.