Angelman Syndrome is a rare condition with different genotypes and varying degrees of severity affecting approximately 1:15000 births, or approximately 490,000 individuals worldwide. To develop a quality set of information on a large number of individuals with the syndrome from around the world, we needed an inclusive, easy to access approach that did not require a visit to the clinician or hospital to collect base information.
The Angelman Registry provides an invaluable resource for researchers and pharmaceutical companies to advance the search for therapeutics into Angelman Syndrome. The Registry provides the perfect mechanism to analyse for planning pre-clinical and research projects as well as a tool to recruit and measure effectiveness of treatments. The Foundation is interested in adding Clinical trial post marketing capacity and can discuss with interested parties.
Post launch we expect the Global Angelman Registry to quickly be the largest collection of data on the Natural History of Angelman Syndrome to date.
The current modules are:
Data has been entered by the parent/caregiver of the individual with Angelman Syndrome as a first step. Parents and caregivers then have the option to have their information verified by their preferred clinician to aid in the validation and quality control of the information collected. There is scope to add further modules and questions to the registry to complement the existing datasets.
Statistical analysis of the Global Angelman Syndrome Registry for any purpose will be overseen by a governance board to ensure that usage of information complies with relevant ethical and privacy protocols. Data analysis will initially focus on descriptive analysis of the sample to aggregate and summarise registry data. More detailed statistical modelling techniques will be used to develop an understanding of the impact of various phenotypes and genotypes or sociodemographic factors on the natural history and progression of the syndrome into adulthood within the population of individuals with Angelman Syndrome. Findings from descriptive analyses will be disseminated to parents/ caregivers in newsletters. This data may also be utilised in research reports and possibly training workshops for paediatricians and paediatric psychiatrists.
All requests for data go through the Data Curator to the Global Angelman Registry Governance Board. In order to do so, external researchers must satisfy the requirements of the registry governance committee regarding ethical use of the data and maintaining patient privacy.
External researchers wishing to access registry data must apply for approval from the registry governance committee. This process applies to requests for de-identified data and identifiable data, and involves:
External researchers wishing to conduct clinical trials or other studies which require access to identifiable information will not be able contact registry participants directly. Once they have been granted approval from the registry governance committee, the registry team will contact eligible members of the registry on behalf of the third party researchers. Interested registry members will then contact the third party researchers directly in order to decide whether they wish to participate.
The process of applying to access registry data is shown in the Figure below.
Before you make a request, please read the data access policy: Data access policy file
This policy outlines responsible use of the data, and the different levels of data access you may request. If you have further questions, please contact the data curator prior to making a request at: email@example.com
Level 1 (for previewing content, deidentified data in aggregate form): Register here [WEBSITE TBA] or contact the data curator at firstname.lastname@example.org
Level 2 (for statistical analysis, deidentified raw data files): L2 file
Level 3 (for original research or commercial purposes): L3 file
Further information is available in the Registry Protocol and Informed Consent documents below. These documents describe the purpose of the study and how data is collected, stored and used. If you have any additional questions or wish to make a request to access data, please email the registry curator at email@example.com
The Global Angelman Syndrome Registry is funded by the Foundation for Angelman Syndrome Therapeutics (FAST) Australia.