A wealth of information ~ The Global Angelman Syndrome Registry is the first of its kind; putting power in the hands of those who care for someone with the Syndrome.  Parents and caregivers will drive the collection of data by volunteering details that will form what we expect to be the largest collection of information on Angelman Syndrome to date.  The Registry will provide a tool for understanding developmental progress, medication and seizure management, but more importantly, it will provide an invaluable resource to advance the search for therapeutics.  

The timing is perfect; with pharmaceutical companies anticipating drug trials to treat the syndrome, the Registry provides the perfect mechanism to analyse, recruit and measure effectiveness of treatments.  

The Global Angelman Syndrome Registry is being initiated and funded by the Foundation for Angelman Syndrome Therapeutics (FAST) Australia with support from the Mater Medical Research Institute, the Mater Children’s Hospital in Brisbane and the Royal Children’s Hospital in Melbourne. The Registry infrastructure was developed by Centre for Comparative Genomics at Murdoch University in Perth. 

Who can participate in the project?

The Registry is open to parents or caregivers of an individual with a confirmed diagnosis of Angelman Syndrome.

Why should I participate?

Your experiences with Angelman Syndrome adds to a collection of information that builds a complete picture that gives users of the Registry the best understanding of Angelman Syndrome possible. Your participation is 100% voluntary. You can opt into the research project via a series of consents (detailed later) and you can opt out at any stage. With your help, we expect the Global Angelman Syndrome Registry to quickly be the largest collection of data on the Natural History of Angelman Syndrome to date.  

What information is collected?

The current modules are;

Newborn & infancy History of diagnosis & results Medical History
Behaviour and Development Epilepsy Medications and Interventions
Sleep Pathology and Diagnostics  
     

Is my information safe?

The Global Angelman Syndrome Registry is hosted by the Centre for Comparative Genomics at Murdoch University in Perth, Western Australia, who host a number of other patient registries. It has medical grade security. All information we receive from you will be treated confidentially and will be encrypted and stored on a secure server. The Rare Disease Registry Framework incorporates several levels of security to protect against data loss and unauthorised access to registry information. 

Any Registry data disseminated to the public domain will be aggregated and de-identified, as patient names, dates of birth and other information which could potentially lead to the identification of participants will be removed from analysis and replaced with a unique identification number. Names and other potentially identifiable information will be linked to these unique identification numbers in a separate file stored on a secure computer terminal, on a separate database to any health data at the university. This process ensures that all data is potentially “re-identifiable” should the need occur. Only de-identified data will be made accessible to researchers who are granted permission though the Global Angelman Registry Governance Board.

How is the data accessed?

All requests for data go through the Data Curator to the Global Angelman Syndrome Registry Governance Board.  The Governance board consists of a variety of stakeholders including a representative from the Foundation for Angelman Syndrome Therapeutics Australia, a parent representative and a number of other medical professionals from relevant disciplines.  Your contact information will not be given to anyone without your consent.

If you consent to being notified of clinical trials, you may be matched with potential clinical trials. If your child/ adult with Angelman Syndrome match the eligibility criteria of an upcoming clinical trial, you will be notified of the opportunity and be provided with contact details for the study coordinator. It is your choice whether you wish to follow up with the study coordinator to determine whether you wish to be involved in the study. 

I have already participated in another study, do I need to do it again?

The framework for the Global Angelman Syndrome Registry allows for collaboration with existing projects. The ability to integrate with existing studies will be dependant on the ethics approval obtained to collect the information and the format the information has been collected in. Please contact the Registry curator on curator@angelmanregistry.info if you know of a study and/or study coordinator we should speak to to join forces. 

What are future plans for the Registry?

We aim to translate into numerous languages to improve accessibility around the globe and plan to include mobile applications for data updates wherever you are. Our intent is to build on the base datasets with new modules and to integrate with existing studies to recognise data already collected.  Find out how you can support the sustainability of this project here...

 

Read Consent, Disclaimer & Release from the Foundation for Angelman Syndrome Therapeutics here

Further information

Download the patient information sheet >
 

Protocol

View the Research Protocol  >

Registry Curator

Contact the Registry curator >

 

 


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