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Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey
Open AccessArticle

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

Foundation for Prader–Willi Research, Walnut, CA 91789, USA
Department of Pediatrics, University of Florida School of Medicine, Gainesville, FL 32611, USA
Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine and Children’s Hospital Colorado, Aurora, CO, USA
Author to whom correspondence should be addressed.
Genes 2019, 10(9), 713;
Received: 31 July 2019 / Revised: 5 September 2019 / Accepted: 9 September 2019 / Published: 14 September 2019
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
Advances in technologies offer new opportunities to collect and integrate data from a broad range of sources to advance the understanding of rare diseases and support the development of new treatments. Prader–Willi syndrome (PWS) is a rare, complex neurodevelopmental disorder, which has a variable and incompletely understood natural history. PWS is characterized by early failure to thrive, followed by the onset of excessive appetite (hyperphagia). Additional characteristics include multiple endocrine abnormalities, hypotonia, hypogonadism, sleep disturbances, a challenging neurobehavioral phenotype, and cognitive disability. The Foundation for Prader–Willi Research’s Global PWS Registry is one of more than twenty-five registries developed to date through the National Organization of Rare Disorders (NORD) IAMRARE Registry Program. The Registry consists of surveys covering general medical history, system-specific clinical complications, diet, medication and supplement use, as well as behavior, mental health, and social information. Information is primarily parent/caregiver entered. The platform is flexible and allows addition of new surveys, including updatable and longitudinal surveys. Launched in 2015, the PWS Registry has enrolled 1696 participants from 37 countries, with 23,550 surveys completed. This resource can improve the understanding of PWS natural history and support medical product development for PWS. View Full-Text
Keywords: Prader–Willi syndrome; registry; natural history Prader–Willi syndrome; registry; natural history
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Bohonowych, J.; Miller, J.; McCandless, S.E.; Strong, T.V. The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics. Genes 2019, 10, 713.

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