FAQs
The Global Angelman Syndrome Registry brings together information from people living with Angelman syndrome around the world. Families and caregivers make this possible by contributing information about their loved one’s health, development and experiences. The Registry exists to turn this information into knowledgethat can improve the lives of people living with Angelman syndrome.
About the Registry
The Global Angelman Syndrome Registry brings together information from people living with Angelman syndrome around the world. Families and caregivers make this possible by contributing information about their loved one’s health, development and experiences.
The Registry exists to turn this information into knowledge that can improve the lives of people living with Angelman syndrome.
The Global Angelman Syndrome Registry is an international, caregiver-reported registry for individuals living with Angelman syndrome.
Parents and caregivers contribute information about their loved one over time, helping us build a better understanding of Angelman syndrome across different ages, genetic types and experiences.
Angelman syndrome is rare and can affect people differently throughout their lives. Individual clinics and studies often see only a window into a person’s experience. By bringing together information from families around the world over time, the Registry can help build a much fuller picture of Angelman syndrome across the lifespan.
Bringing information from families around the world together helps us identify patterns, understand unmet needs and build evidence that can improve care, research and the development of new treatments.
The Registry is ultimately for people living with Angelman syndrome and their families.
The knowledge generated by the Registry is intended to support everyone working to improve their lives, including families, researchers, clinicians, healthcare services, Angelman organisations, policymakers, and biotechnology and pharmaceutical companies developing potential treatments.
Joining the Registry
Parents and caregivers of a person diagnosed with Angelman syndrome can contribute information to the Registry.
The Registry collects information about areas including:
- demographics and diagnosis
- medical history and health
- hospitalisations and procedures
- medications and therapies
- development and daily function
- sleep
- behaviour and communication through standardised assessments.
Some information is collected once, while other information can be updated over time.
View our Data Catalogue for more detail about the information currently collected.
No. The Registry is organised into sections so you can provide information over time. You can complete one section at a time, save your progress and return to it later – you don’t even need to complete a whole section in one sitting.
As information needs to be updated or new sections become due, the Registry will prompt you. This helps keep your information current without requiring you to complete everything at once.
You can also update individual clinical information directly from your dashboard using the edit icon. For example, if a medication changes or there is a change in seizures, you can update that information without having to complete the whole section again.
Angelman syndrome changes across the lifespan. Treatments, medications, abilities, health issues and other experiences can also change.
Information collected over time helps us understand these changes and creates a much more useful picture of Angelman syndrome than information collected at only one point in time.
Using Registry Data
Registry data can be used to:
- improve understanding of Angelman syndrome and its natural history
- identify unmet health, care and service needs
- support research and reduce duplication of data collection
- inform standards of care, health services and policy
- support clinical trial design, feasibility and recruitment
- help identify meaningful outcomes for research and clinical trials
- support the development and evaluation of new treatments
- provide evidence to support access to care, services and treatments
We want Registry data to be useful to people and organisations genuinely working to improve the lives of people with Angelman syndrome. This may include biotechnology and pharmaceutical companies developing treatments, researchers, clinicians, healthcare organisations, Angelman syndrome organisations, policymakers and other approved collaborators.
Access is not automatic. Requests for Registry data are considered through the Registry’s data access and governance processes.
Where participants have consented to third-party use, approved organisations may access de-identified Registry data. Names, contact details and other identifying information are never shared with third parties.
Yes.
Companies developing or evaluating potential treatments for Angelman syndrome may apply to use Registry data for appropriate purposes, such as understanding Angelman syndrome, planning clinical trials, identifying relevant outcomes or supporting therapeutic development.
Companies do not receive participants’ names, contact details or other directly identifying information. They also do not automatically receive access to Registry data. All requests are considered through the Registry’s data access and governance processes.
Absolutely not. Your name, contact details and other directly identifying information are not sold to researchers, pharmaceutical or biotechnology companies, or other anyone else.
The Registry may charge fees for some data services, particularly where a request requires significant work by the Registry curator to prepare, analyse or report data.
Any potential fees are for the work involved in providing the data service or access – not for the sale of your personal information. Data provided through the Registry’s standard data access process are de-identified and subject to the Registry’s data access and governance requirements.
Privacy and Security
Registry data provided for approved research and other uses are de-identified, meaning directly identifying information such as names and contact details is removed.
For many uses, data may also be provided in aggregate form, meaning information from multiple Registry participants is grouped together and reported as statistics or summaries rather than as individual participant records. For example, a report might show the number of participants who experience a particular symptom or use a particular medication.
Additional safeguards are applied where information could potentially identify an individual, particularly when numbers are small or a characteristic is rare, such as mosaicism. In public Registry reporting, small numbers are reported as <10 rather than showing the actual number, providing an additional layer of protection for participant privacy.
Protecting participant information is a core responsibility of the Registry. We use security, privacy and governance measures to control how information is stored, accessed and used.
The Registry operates under Human Research Ethics Committee (IRB) oversight, with Associate Professor Honey Heussler as Principal Investigator, and is supported by a governance committee that includes experts in Angelman syndrome and related fields. We also have dedicated data protection oversight and European representation to help us meet the responsibilities of operating a global Registry.
As a global Registry, we take into account applicable privacy and data protection requirements across the countries and regions in which we operate, together with recognised standards for the secure management of health and research data.
These layers of oversight help ensure Registry data are managed responsibly, used only for appropriate purposes, and protected throughout their collection, storage, access and use.
Research and Clinical Trials
Registry data can help answer important research questions without repeatedly asking families to provide the same information, reducing the burden on parents and caregivers while making better use of the information they have already contributed.
Researchers can use Registry data to explore important questions, look for patterns and relationships, better understand the Angelman syndrome population, identify gaps in knowledge, and examine Angelman syndrome across the lifespan. The Registry can also help determine whether there may be enough participants to support a proposed study.
Where an important question cannot be answered using existing Registry data, new questions or measures may be added to support approved research. This allows new information to be considered alongside the rich information families have already provided, adding greater value to both the research and the Registry.
No.
Every clinical trial has specific eligibility requirements. Joining the Registry can help make families aware of opportunities and help researchers understand the Angelman syndrome population, but it does not guarantee eligibility or participation in a clinical trial.
Questions, comments or suggestions?
The Global Angelman Syndrome Registry is built for and with the Angelman syndrome community. We welcome your questions, comments, suggestions and ideas about how the Registry can better serve people living with Angelman syndrome and their families.
If you have feedback, need help, or would simply like to talk to us about the Registry, our Data Curators would love to hear from you.
Email the Data Curators: curator@angelmanregistry.info