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. 2019 Sep 14;10(9):713.
doi: 10.3390/genes10090713.

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

Jessica Bohonowych  1 , Jennifer Miller  2 , Shawn E McCandless  3 , Theresa V Strong  4
Affiliations

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

Jessica Bohonowych et al. Genes (Basel). .

Abstract

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.

Keywords: Prader–Willi syndrome; natural history; registry.

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Conflict of interest statement

J.B. and T.V.S. are employees of the Foundation for Prader–Willi Research. J.M. and S.E.M. declare no conflicts of interest.

Figures

Figure 1
Figure 1
Age of Registry participants at time of enrollment. Registry participants range in age from newborn infants to adults. The majority of registry participants are under 15 years of age.
Figure 2
Figure 2
Gender of Registry participants.
Figure 3
Figure 3
PWS genetic subtype of Registry participants. PWS by deletion is the predominant genetic subtype of participants within the Registry. PWS by uniparental disomy (UPD) is the second most common diagnosis. PWS by imprinting defect, translocation, and micro-deletions are also represented within the Registry. Approximately 10% of Registry participants do not know their PWS genetic subtype.
Figure 4
Figure 4
Infographics of Registry data shared with the PWS community. De-identified aggregate data is exported from the Registry, analyzed, and represented in infographics, and shared through social media, print newsletters, and other communications. Each infographic is designed to highlight a specific topic area of interest to PWS families, clinicians, and other stakeholders within the PWS community. Infographics and accompanying descriptions are available at https://www.fpwr.org/blog.
See this image and copyright information in PMC

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