The Global Angelman Registry and Why It’s Important to Join

The Global Angelman Registry and Why It’s Important to Join
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If you are a parent or caregiver of someone with a confirmed Angelman syndrome diagnosis, it’s important that you share your experiences by participating in the Global Angelman Syndrome Registry.

Among other things, the information collected is expected to help researchers develop new therapies for Angelman syndrome, and doctors to better serve these patients.

The registry

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?

You may register at www.angelmanregistry.info. For further information, visit the patient information sheet. You may withdraw from the registry at any time.

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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Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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