The Global PWS Registry, launched in May of 2015, now has more than 1,000 registered participants diagnosed with PWS, Schaaf-Yang syndrome and USP-7 mutations. This blog shares some highlights of the data collected via the registry to date.
Global PWS Registry participants hail from 33 countries around the world with the 4 most common countries being: the United States (73%), Canada (10%), the UK (3%) and Australia (3%). Currently, 66% of registry participants are under the age of 10 years, 17% are between 10 and 18 years old and 17% are adults over the age of 18.
The vast majority of those in the registry are diagnosed with PWS, but the participants also include individuals with mutations of the PWS-related gene, MAGEL2 (Schaaf-Yang syndrome) as well as individuals with mutations in the USP-7 gene, which is functionally related to MAGEL2. When examining the PWS diagnosis subtypes, there is a slightly greater percentage of PWS by uniparental disomy (UPD) diagnosis than previously reported in the medical literature. Approximately 38% of registry participants report UPD whereas 51% report deletions and 3% report Imprinting Defect (ID). The ‘other’ category, which represents 1% of respondents, includes SYS and USP-7 diagnosis, as well as less common genetic anomalies on the paternal chromosome 15 such as microdeletions and translocations.
Use of Growth Hormone for PWS
In reviewing the use of growth hormone by people participating in the registry, 91% of respondents say their participant is using or has used growth hormone. Of those participants who have used growth hormone, 71% began before age 2 and 93% perceive they have received benefit from the drug. While several brands of growth hormone are being used, Genotropin remains the most common, with 38% of patients using this brand.
Data from the Global PWS Registry will continue to drive new research and help provide a better understanding of the natural history of PWS. It is critical that the entire PWS community is represented in this data, to fully understand the spectrum of challenges facing those with PWS. To learn more about how to get started in The Global PWS Registry, click here. If you are already enrolled and need to update your surveys, click here. Let YOUR STORY be heard!