Global Angelman Syndrome Registry
Faces of Angelman Syndrome

Global Angelman Syndrome Registry Frequently Asked Questions (Clinician Version)

Background

Angelman Syndrome is a rare condition with different genotypes and varying degrees of severity affecting approximately 1:15000 births, or approximately 490,000 individuals worldwide. To develop a quality set of information on a large number of individuals with the syndrome from around the world, we needed an inclusive, easy to access approach that did not require a visit to the clinician or hospital to collect base information.

The Angelman Registry provides an invaluable resource for researchers and pharmaceutical companies to advance the search for therapeutics into Angelman Syndrome.  The Registry provides the perfect mechanism to analyse for planning pre-clinical and research projects as well as a tool to recruit and measure effectiveness of treatments. The Foundation is interested in adding Clinical trial post marketing capacity and can discuss with interested parties.

Post launch we expect the Global Angelman Registry to quickly be the largest collection of data on the Natural History of Angelman Syndrome to date.

What types of data are collected?

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

The registry is patient and family driven. As a first step, data has been entered by the parent/caregiver of the individual with Angelman Syndrome. Parents and caregivers then have the option to have their information verified by their preferred clinician to aid in the validation and quality control of the information collected. There is also scope to add further modules and questions to the registry to complement the existing datasets.

Families may ask you to enter information or data on their behalf in which case…

Am I required to participate?

You are not required to participate yourself but families may ask for information relating to some questions on the database. We may need to contact you to ask for verification of the diagnosis. If this is the case the families you see will have sent a copy of the consent form to you for release of information to the dataset.

Do I need an ethical approval?

Ethics approval has been obtained for the global registry through Mater Health Services HREC. If you have any queries about the study please contact the governance committee or HREC co-ordinator. Further information about the study is included in the Registry Protocol and Informed Consent documents below. You may also contact the registry curator at [Ethics approval has been obtained for the global registry through Mater Health Services HREC. If you have any queries about the study please contact the governance committee or HREC co-ordinator. Further information about the study is included in the Registry Protocol and Informed Consent documents below. You may also contact the registry curator at curator@angelmanregistry.info.

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

What will I be required to do?

Parents/ caregivers may ask you to verify information at a scheduled appointment with you. Alternatively, the research team may contact you on the parent/ caregiver’s behalf to confirm an Angelman Syndrome diagnosis. The parent/ caregiver will have a signed consent form which they will upload to the registry allowing release of information.

Can I opt out?

Yes, participation in the Global Angelman Syndrome Registry study for clinicians is voluntary.

Who is sponsoring this registry?

The Global Angelman Syndrome Registry is funded by the Foundation for Angelman Syndrome Therapeutics (FAST) Australia.


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