A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

Kathryn R. Napier,
Megan Tones,
Chloe Simons,
Helen Heussler,
Adam A. Hunter,
Meagan Cross and
Matthew I. BellgardEmail author View ORCID ID profile

Orphanet Journal of Rare Diseases201712:134

https://doi.org/10.1186/s13023-017-0686-1

Received: 11 July 2017

Accepted: 24 July 2017

Published: 1 August 2017

Abstract

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.

The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.

We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.