The Global Angelman Registry and Why It’s Important to Join
Among other things, the information collected is expected to help researchers develop new therapies for Angelman syndrome, and doctors to better serve these patients.
Launched in 2016 and funded chiefly by the Foundation for Angelman Syndrome Therapeutics Australia, the registry is the first worldwide patient registry dedicated to Angelman syndrome. Stakeholders include parents and families of patients, researchers, clinicians, and pharmaceutical companies.
This online registry seeks to amass data necessary to develop a comprehensive understanding of this disease, which has a prevalence of about 1 in 12,000 to 20,000 individuals.
The registry, whose modules takes about 1.5 to two hours to complete, will allow researchers conducting clinical trials testing potential Angelman syndrome treatments to more easily recruit participants. It also seeks to:
- Improve understanding of the natural history and impact of Angelman syndrome across the lifespan of patients
- Help focus future Angelman syndrome research
- Inform the future care of patients and their families
- Compare Angelman syndrome populations in different regions globally
What info does the registry collect?
Currently, the registry consists of modules covering patient diagnosis, symptoms, and aspects of birth and infancy, diagnoses and test results, medical history, behavior and development, seizures, medications and interventions, sleep, pathology and diagnostics, and communication skills.
How would my child benefit?
Data that the registry collects will be used to help physicians working with Angelman patients to ensure the best standards of care, and to help advance research into the study of Angelman syndrome.
Parents and caregivers of patients taking part in the registry can request information about clinical trials into possible new treatments. You will be notified of Angelman trials that match your child, and given information to contact a study coordinator. The decision to contact the coordinator for further information, or to join the trial, is yours alone.
Is my information safe?
Your participation is voluntary, and data is available to only to those scientists the registry’s governance board, which includes representatives of the Angelman foundation and parents as well as medical specialists, approves for its use.
Care is taken that all information parents and caregivers share with the registry is treated with privacy and confidentiality, and kept secure. Only de-personalized information is sent to those researchers granted permission for it.
The registry is hosted by the Centre for Comparative Genomics at Murdoch University, which developed its infrastructure.
How can I join the registry?
What should I do to prepare?
Collect and have ready any information you have on your child’s diagnosis, tests, and development.
Last updated: May 12, 2020
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