Global Angelman Syndrome Registry
Faces of Angelman Syndrome

Global Angelman Syndrome Registry Frequently Asked Questions (Participant Version)

Q. Why should I join the registry?

The key objective of the Global Angelman Syndrome Registry is to collect information about children and adults with Angelman Syndrome.  This will allow for researchers conducting clinical treatment trials and other studies into Angelman Syndrome to recruit participants more easily. The registry will also serve other objectives including:

  • Improving understanding of the natural history and impact of Angelman Syndrome across the lifespan;
  • Focus further research into the study of this condition; and
  • Inform future service planning for people with Angelman Syndrome and their families.

Q. Who can participate?

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

Q. How do I register?

When you first register via the “Register now” button, you will be asked to provide your basic details, including your email address, to receive Registry login details. Upon completing the registration form, you will receive an email with a link to activate your account (confirming that you are a real person). You will also be asked to nominate a supervising clinician when you log into your registry account. This clinician should be someone that you are able to access through an appointment at a later date for them to verify that the data you have entered is correct.

All parents/ caregivers will be asked to read an online consent form detailing the purpose of the Global Angelman Syndrome Registry. You will be asked to confirm that you have read and understood the information sheet, particularly with respect to the voluntary nature of the registry and their ability to withdraw without penalty.

The consents are as below:

  • I confirm that I have read and understand the information sheet (V8) dated 7th of September 2016, for the above study. I have had the opportunity to consider the information, ask questions and have had these answered satisfactorily.
  • I understand that my participation is voluntary and that I am free to withdraw at any time, without giving any reason, without my medical care or legal rights being affected.
  • By entering data into the registry, I understand that I give consent for the storage of data on my child/ adult with Angelman Syndrome in the Global Angeman Syndrome Registry.
  • I understand that the storing of data will allow contact to be made with me if a suitable clinical trial/ research study becomes available for my child/ adult with Angelman Syndrome.
  • However, I accept that allowing my data to be stored on this database does not mean my child/ adult with Angelman Syndrome will automatically be entered into future clinical trials/ research studies.
  • I understand that the data I provide may be used to inform and plan future research.
  • I understand that the results from future research may not have any direct implications for me or my family.
  • I am happy to consent for my child/ adult with AS to be included in this registry.
  • I confirm I am happy for the specialist in charge of my medical care to be contacted to verify diagnostic information.
  • I consent to being contacted to complete additional modules/ for longitudinal follow up.
  • I consent to being contacted about clinical trials and research studies that my child/ adult with Angelman Syndrome may be eligible to participate in.

Note: You are also required to sign and return a consent form by scanned email if you would like the research team to contact your nominated doctor on your behalf. Alternatively, you may choose to login to the registry at an appointment with your doctor and ask them to verify your information.

Q. What information will I be asked to provide about the person with Angelman Syndrome?

Once you have completed the consent section you will be taken through a series of modules that will take approximately an hour and a half to complete. We suggest that you collect any information you have on your child’s/ adult’s diagnosis, tests and development to make this process easier (however they can be added at a later date). If you find that you don’t have enough time to complete all the information in one block you can login again and complete at a later date.

The current modules are;

  • Newborn & infancy history
  • History of diagnosis & results
  • Illnesses or medical problems
  • Medical History
  • Behaviour and Development
  • Epilepsy
  • Medications and interventions
  • Sleep
  • Sleep Disturbance Scale for Children
  • Pathology and Diagnostics

Q. Is my information secure?

All information we receive from you will be treated confidentially and will be encrypted and stored on a secure server hosted by the Centre for Comparative Genomics at Murdoch University in Perth, Western Australia. 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.

Q. Who will be able to access my information?

Any information parents/ caregivers choose to include on the Angelman Syndrome registry will be treated with utmost care to maintain privacy and confidentiality. All requests for data go through the Data Curator to the Global Angelman 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.

Q. I want my child/ adult with AS to be involved in clinical trial, how will I be contacted?

If you consent to being 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 determine whether you wish to be involved in the study.

Q. I completed the registry last year, why am I being asked to complete the surveys again?

You may be asked to update the data you provide so that the registry contains the most current information on its patients.

Q. Where can I get additional information about the registry?

Further information is available in the Registry Protocol and Informed Consent documents below. These documents describe the purpose of the study and how data is collected, stored and used. It is important that you read and understand this information before you decide whether or not to participate in the registry. If you have any additional questions, please email us at curator@angelmanregistry.info.

Attachment: Informed Consent
Attachment: Simplified Protocol
Attachment: Consent, Disclaimer, Indemnity and Release

Q. How long does it take to fill out the registry?

Approximately 1.5 - 2 hours, depending on the amount of information you wish to provide. You do not need to complete the registry all at once.


Foundation for Angelman Syndrome Therapeutics
Mater Medical Research Institute
Centre for Comparative Genomics
Murdoch University

Copyright © Foundation for Angelman Syndrome Therapeutics Australia

The Angelman Syndrome Registry is based on the Rare Disease Registry Framework. Authorised by Prof. Matthew Bellgard, Director, CCG.

Site updated: 05-10-2017