Creating new opportunities, insight and understanding

Be part of building knowledge for a brighter future for those with Angelman Syndrome

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide.

Sadly, we don’t know exactly how many individuals are undiagnosed worldwide.

Children and adults with AS typically have impaired motor and balance, and debilitating seizures. There are a range of other symptoms and behavioural traits, which can differ case by case.

Our Mission

The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.

Our goal is to centralise information and assist with the need for a significant set of global data on individuals diagnosed with Angelman syndrome.

Participants

Publications

Languages

Active Countries

For Clinicians and Researchers:

Our goal is to make data accessible for anyone with an interest in furthering understanding into Angelman syndrome: either for research or care management and for those developing and testing therapeutics to treat symptoms in the disorder.

The ultimate beneficiaries for this project are individuals diagnosed with Angelman syndrome.

Throughout the data collection process, we collect data on the individual’s newborn, infancy, and diagnostic history, hospitalisations and surgical procedures, epilepsy, medications, therapies, communication, sleep and more.

For Families and Caregivers

You as a caregiver know your loved one with Angelman syndrome better than anyone else. The data you can provider is instrumental in understanding Angelman syndrome and its day to day impact on your loved one.

To have a meaningful understanding of Angelman syndrome, we need data about many, many individuals with Angelman syndrome. AS is a variable condition, and each individual is unique. Consequently, each and every parent and caregiver has valuable information to contribute.

To collect this information, we need to hear from you. This project is a community collaboration to be used to improve the lives of all who have been diagnosed or are yet to be diagnosed with Angelman syndrome.

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.

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.

Research & Publications

News

Accelerating precision therapies through digital infrastructure for adaptive trials and trial-ready cohort studies

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 […]

Website Design. Developing Programming And Coding Technologies.

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

Caregivers Report on the Pathway to a Formal Diagnosis of Angelman Syndrome: A Comparison Across Genetic Etiologies within the Global Angelman Syndrome Registry

Angelman 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 variants (ubiquitin protein ligase EA3), imprinting defects or uniparental disomy (patUPD) etiology. The aim of this paper is to explore parent’s experiences of the pathway to diagnosis involving 394 children with formal diagnoses of AS.

Creating new opportunities, insight and understanding

Access Data

Join the Registry

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide.

Our Mission

The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.

For Clinicians and Researchers:

Newborn & Infancy History

6 Month Check Up

Behaviour & Development

History of Diagnosis & Results

Stopped Medication

Change in Seizure Activity

For Families and Caregivers

You as a caregiver know your loved one with Angelman syndrome better than anyone else. The data you can provider is instrumental in understanding Angelman syndrome and its day to day impact on your loved one.

About Us

Testimonials

Research & Publications

Building a brighter future for those with Angelman Syndrome

Access Data

Donate Data

Share This

Creating new opportunities, insight and understanding

Access Data

Join the Registry

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide.

Our Mission

The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.

For Clinicians and Researchers:

Newborn & Infancy History

6 Month Check Up

Behaviour & Development

History of Diagnosis & Results

Stopped Medication

Change in Seizure Activity

For Families and Caregivers

You as a caregiver know your loved one with Angelman syndrome better than anyone else. The data you can provider is instrumental in understanding Angelman syndrome and its day to day impact on your loved one.

About Us

Testimonials

Research & Publications

Building a brighter future for those with Angelman Syndrome

Access Data

Donate Data

Privacy Overview

Share This