A wealth of information
Parents and caregivers are driving the collection of data by contributing to the largest dataset on Angelman syndrome by entering details of their loved one/s diagnosis, medical history, development and more in a series of online modules. The Global Angelman Syndrome Registry is a tool for understanding developmental progress, medication and seizure management, but more importantly, it provides an invaluable resource to advance the search for therapeutics.
With pharmaceutical companies anticipating drug trials to treat the syndrome, the Registry provides the perfect mechanism to analyse, recruit and measure the effectiveness of treatments.
The Registry was 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 the Centre for Comparative Genomics at Murdoch University in Perth. The project meets strict health data collection and storage requirements for participants around the world.
Who can participate in the registry?
The Registry is open to parents or caregivers of an individual with a confirmed diagnosis of Angelman syndrome.
How can I participate?
Your experiences with Angelman syndrome add to a collection of information that builds the best comprehensive understanding of Angelman syndrome possible for all stakeholders (researchers, pharma, clinicians and you!). Your participation is 100% voluntary and all your personal information is protected by strict data privacy and security procedures. You can opt into the research project via a series of consents and you can opt-out at any stage.
What information is collected?
The current modules are:
- Newborn & infancy
- History of diagnosis & results
- Medical History
- Behaviour and Development
- Medications and Interventions
- Pathology and Diagnostics
- Communication (new)
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 the 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 through 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 be notified of clinical trials, you may be matched with potential clinical trials. If your child/adult with Angelman syndrome matches 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 learn more about what it entails.
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 in which the information has been collected. Please contact the Registry curator on firstname.lastname@example.org if you know of a study and/or study coordinator we should seek to collaborate with.
What are the future plans for the Registry?