PROVIDING INSIGHT & RESEARCH INTO ANGELMAN SYNDROME
Creating new opportunities, insight & understanding.
Be part of building knowledge for a brighter future for those with Angelman Syndrome
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Our Mission
The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.
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About Us
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.
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Testimonials
We are so excited to see the Global Angelman Registry being leveraged to provide an incredibly robust database of real world patient data that pharmaceutical companies, clinicians, and researchers can utilize to help inform meaningful clinical endpoints globally and ensure all patients worldwide are represented.
The Global Angelman Registry is a robust registry that allows many stakeholders in the AS field to really work hard towards therapeutic treatments. Every caregiver has an opportunity to aid to research by completing their profile. What a great way for the community to get involved and push us closer to a cure!
The Global Angelman Registry is an incredibly valuable tool that will provide comprehensive, global insight to researchers, physicians, and companies to further understand AS and inform clinical trials. It is important that families are participating to ensure this information is readily available.
Establishing this collaborative network of families, clinicians and researchers enables the collection and sharing of important information that can provide powerful tools to inform the development of future treatments that everyone can benefit from.
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News
The project is a feasibility study for the development of a national digital infrastructure to support adaptive clinical trials and ‘trial-ready’ natural history cohort studies for a number of rare diseases. The digital study is an open-source solution that will improve efficiencies and seamlessly capture patient-reported data in drug evaluation through trial enrolment and data […]
Podcast
The Benefits of an Open-Source Registry for Rare Diseases
The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for […]
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1 Developmental Paediatric Group, Mater Medical Research Institute, South Brisbane, Queensland, Australia. 2 Foundation for Angelman Syndrome Therapeutics Australia, Brisbane, Queensland, Australia. 3 Murdoch University, Centre for Comparative Genomics, Murdoch, Western […]
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1 Developmental Paediatric Group, Mater Medical Research Institute, South Brisbane, Queensland, Australia. 2 Foundation for Angelman Syndrome Therapeutics Australia, Brisbane, Queensland, Australia. 3 Murdoch University, Centre for Comparative Genomics, Murdoch, Western […]
Abstract ObjectivesAngelman syndrome (AS) and is typically diagnosed in children under the age of three based upon early behavioural concerns identified by parents, or genetic links with other family members. For some families however, the pathway to diagnosis is not so clear, particularly when children demonstrate differential characteristics, commonly seen for those with UBE3A pathogenic […]