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:
This registry is open to parents or caregivers of an individual with a confirmed diagnosis of Angelman Syndrome.
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:
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.
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;
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.
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.
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.
You may be asked to update the data you provide so that the registry contains the most current information on its patients.
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 firstname.lastname@example.org.
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.