A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
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LETTER TO THE EDITOR
Open Access
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry Kathryn R. Napier1, Megan Tones2, Chloe Simons3, Helen Heussler4, Adam A. Hunter1, Meagan Cross3 and Matthew I. Bellgard1*
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. Keywords: Angelman syndrome, Disease registry, Global, Interoperable, Open source, Patient reported, Rare disease, Registry framework
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of function of UBE3A, an imprinted, maternally expressed gene on chromosome 15 [1, 2]. The syndrome was first described by Dr. Harry Angelman in 1965 [3], and is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition [4–6]. The developmental delay of AS is generally noticed by six to 12 months of age, with the clinical diagnosis usually made between 1 and 4 years of age [7]. The estimated prevalence of AS is between 1:15,000– 24,000 [8, 9], and there is currently no cure. Individuals with AS have a normal lifespan, and normally receive medical therapy for seizures and physical, communication, * Correspondence: [email protected] 1 Centre for Comparative Genomics, Murdoch University, Perth, WA 6150, Australia Full list of author information is available at the end of the article
and behavioural therapies to help improve their quality of life. Current research is investigating the molecular mechanisms by which UBE3A deficiency results in AS, and possible gene therapy treatments. With several pharmaceutical companies anticipating drug trials for new therapies to treat AS, the Foundation for Angelman Therapeutics (FAST) Australia identified a need for a global AS patient registry to further u
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