FPWR is pleased to announce the launch of the Global Schaaf-Yang Syndrome Registry, an online registry for individuals with Schaaf-Yang syndrome (SYS) and their parents/caregivers.
SYS is a rare genetic neurodevelopmental disorder caused by mutations in the MAGEL2 gene. Clinical features of SYS include poor muscle tone (hypotonia), contractures of joints, feeding and respiratory problems, gastrointestinal issues, orthopedic problems, seizures, endocrine issues, impaired vision, and varying degrees of intellectual disability.
The primary aim of the Global SYS Registry is to collect information from individuals with SYS that will lead to a better understanding of the syndrome. The Registry will also identify areas of needed research, develop recommendations for standards of care, and ultimately, support the development of treatments for SYS.
The Global SYS Registry consists of surveys that will collect information about people living with SYS. The information collected will be used for a variety of purposes, such as conducting natural history studies and supporting disease-specific clinical trial recruitment. The Global SYS Registry serves to:
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Support the design of clinical trials that explore new rare disease treatments;
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Describe the people who have SYS and better understand the variability and stages of SYS;
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Understand how SYS changes over a person’s lifetime;
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Learn about clinical practice patterns and variations over the course of treatment;
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Help to develop best practices, management guidelines, and recommendations so that clinicians can know how to give the best care to improve the quality of life and outcomes of people with SYS.
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Identify people with SYS who might be willing to take part in other research studies or clinical trials. (You will be able to choose whether you want to hear about these other studies.)
We invite members of our SYS community to enroll and participate in the Global SYS registry. Your participation will accelerate the advancement of SYS research and help find treatments for SYS.
The Global SYS Registry is hosted by the National Organization for Rare Disorders, Inc.
(NORD®), and is funded by the Foundation for Prader-Willi Research (FPWR).
