The Angelman Syndrome Online Registry: A multilingual approach to support global research

Ilona Krey, Constanze Heine, Marcel Frömming, Julia Herrmann, Rikke S Møller, Sarah Weckhuysen, Carolina Courage, Skadi Beblo, Steffen Syrbe, Johannes R Lemke*

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review


In collaboration with the German Angelman syndrome (AS) community, we developed a web-based AS Online Registry to congregate existing as well as future information and scientifically quantify observations made by parents, families and medical professionals. With its user-friendly design as well as its concise and multilingual questionnaire, the registry aims at families who had so far refrained from being recruited by other, more comprehensive and/or English-only, registries. Data can be entered by both parents/families and medical professionals. The study design allows for re-contacting individuals (e.g. to request additional information) enabling collection of longitudinal data. Since its launch in June 2020, more than 200 individuals with AS age 2 month to 83 years have registered and entered their clinical and genetic data. In addition to the German, Turkish, English, Dutch, Italian, Danish and Finnish versions of the registry, we aim for translation into further languages to enable international and user-friendly recruitment of AS individuals. This novel registry will allow for extensive genotype-phenotype correlations and facilitate sharing of de-identified information among clinicians, researchers as well as the Global AS Registry. Furthermore, the registry will allow for identification of individuals suitable for future clinical or pharmacologic trials according to particular genotypic and/or phenotypic properties.

Sider (fra-til)104349
TidsskriftEuropean Journal of Medical Genetics
Udgave nummer12
Tidlig onlinedato4 okt. 2021
StatusUdgivet - 1 dec. 2021

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