Newborn Screening Study for Rare Disorders
22 Nov

Newborn Screening Study for Rare Disorders

World’s Largest Newborn Screening Study for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes Launches

Nonprofits co-fund feasibility study to test screening tool for 75,000 newborns for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes

AURORA, Ill., and WALNUT, Calif. (November 8, 2018) – The Angelman Syndrome Foundation and the Foundation for Prader-Willi Research announce funding to support the world’s largest newborn screening study for four rare genetic disorders: Angelman, Prader-Willi, Fragile X and Dup15q syndromes. The Victorian Medical Research Acceleration Fund this year also contributed $100,000 toward the project.

In a pilot study, Associate Professor David Godler from the Murdoch Children’s Research Institute in Melbourne, Australia, will screen 75,000 newborns, establishing the feasibility of the test for large-scale screening.

“Newborn screening means families with loved ones with Angelman, Prader-Willi, Fragile X and Dup15q syndromes find a diagnosis in weeks instead of years, avoiding a painful diagnostic journey. And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner,” says Eileen Braun, Executive Director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome (AS). “Research, including studies funded by the ASF, is moving quickly toward therapeutics and a cure for AS, and experts are now pinpointing the optimal window for applying a cure. The sooner we can diagnose, the sooner we can apply life-changing treatments.”

“Having a cost-effective test to accurately diagnose these syndromes in the newborn period is key to ensuring that families receive optimal medical care and support,” adds Theresa Strong, Director of Research Programs for FPWR. “The study will validate the newborn screening tool so that, once approved for use, it can be used to screen all babies in the newborn period.”

“This would allow individuals to have standard-of-care therapies right from the beginning,” says Dr. Jessica Duis, MD, MS, Director of the Comprehensive Angelman Syndrome and Prader-Willi Clinics at Vanderbilt University Medical Center. “For example, for Prader-Willi Syndrome (PWS), this means growth hormones and early intervention therapies that we know from experience have huge benefits.”

When available, life-changing therapeutics and a cure for AS could be implemented within the first weeks of life.

Current rates of incidence of PWS and AS vary widely from 1:12,000 and 1:30,000 live births. The study will also help understand the true incidence and full spectrum of these disorders in the population. 

“I believe the prevalence of these disorders is underestimated, because all tests used to diagnose these conditions were developed more than 10 years ago and are not as sensitive,” says A/Prof. Godler.

AS in particular is often not diagnosed until individuals are between one to three years of age and delays are noted, significantly delaying therapies and creating stress and hardship for families.

The study was inspired by A/Prof. Godler’s previous work to develop a test called MS-QMA, which can accurately diagnose Fragile X syndrome, a common genetic disorder linked to autism spectrum disorder. With additional funding, he found the test could also be used to screen for PWS, AS and Dup15q.

“My dream is to one day have our tests included in newborn screenings around the world,” says A/Prof Godler. “That means the families with babies with these conditions get the support and care they need from day one.”

A/Prof Godler is also a member of the Paediatrics Department of the University of Melbourne.

A/Prof Godler’s Fragile X test is being trialed on samples of 100,000 babies, thanks to an earlier $800,000 Australian National Medical Research Council grant and a $500,000 Australian Federal Government’s Medical Research Future Fund fellowship awarded in 2015 and 2018, respectively.

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About the Angelman Syndrome Foundation (ASF)

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing treatments and a cure for Angelman syndrome. Since 1996, the ASF has funded 101 research grants totaling more than $9.5 million. The ASF has awarded a majority of these funds ($9.2 million) beginning in 2005. 

About Prader-Willi syndrome (PWS)
Prader-Willi syndrome
is a rare, genetic disorder affecting approximately 1 in 15,000 people. PWS is a complex condition that impacts nearly every system in the body. The hallmark symptom of PWS is hyperphagia, an unrelenting appetite and extreme hunger. A person with PWS never feels full.  There are currently no effective treatments to regulate appetite in PWS and individuals with PWS require a highly restricted environment to prevent life-threatening overeating and obesity.  Additional associated problems include growth hormone deficiency, behavioral challenges, intellectual disability, anxiety, sleep disturbances, and scoliosis. For many individuals with PWS, the elimination of hyperphagia would represent a critical advance, bringing new possibilities for an independent life.

About Foundation for Prader-Willi Research (FPWR)
FPWR is composed of thousands of parents, family members, researchers, and others who are interested in addressing the many issues related to PWS, including childhood obesity, developmental delays, psychiatric disorders, and autism spectrum disorders. The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research and therapeutic development. FPWR supports cutting edge research studies around the world to advance the understanding of PWS, and collaborates with research institutions, pharmaceutical companies and the FDA to advance new treatments that will help those with PWS.  To date, FPWR has funded over $10 million in PWS research. For more information please visit https://www.fpwr.org/.