New York Pilot Program Uses PerkinElmer’s Recently Approved DMD Screening Test for Newborns

New York Pilot Program Uses PerkinElmer’s Recently Approved DMD Screening Test for Newborns
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Parent Project Muscular Dystrophy (PPMD) will use PerkinElmer‘s recently federally authorized test to aid newborn screening for Duchenne muscular dystrophy (DMD) in a newly launched pilot program in New York state.

Results from the two-year Newborn Screening Pilot for Duchenne Muscular Dystrophy, launched in collaboration with consortia including the American College of Medical Genetics, could help lay the groundwork for further Duchenne newborn screening programs in the United States and globally.

The first of approximately 100,000 infants was recently screened by the New York State Department of Health using the test — the first of its kind to be available in DMD.

Pat Furlong, PPMD president and CEO, called the collaborative program and PerkinElmer’s involvement a “critical moment” in Duchenne therapy development.

“I am a firm believer that knowledge is power in our fight to end the progression of this deadly disorder,” she said in a press release. “Early diagnosis will mean early intervention.”

Newborn screening can lead to the identification of treatment options before disease symptoms are evident. In particular, research has shown that treatment with corticosteroids supports muscle repair in infants and young boys with DMD, underscoring the need for early testing. The most common of more than 30 types of muscular dystrophy, DMD leads to progressive deterioration of muscle fibers.

Marketed by PerkinElmer, the GSP Neonatal Creatine Kinase-MM kit was authorized for DMD screening last month by the U.S. Food and Drug Administration (FDA). The test measures levels of creatine kinase (CK)-MM — normally found in muscles — in dry blood within 24 to 48 hours after birth. Excessive levels of CK-MM in blood is a marker of muscle damage and can indicate the presence of DMD.

To validate the assay, PerkinElmer had tested 30 samples from infants with a confirmed DMD diagnosis. The kit correctly identified all samples. FDA authorization allows clinicians across the United States to add the kit to their panel of newborn screening tests, which aims to help identify serious medical conditions shortly after birth.

Yet, the kit is not a DMD diagnostic test. For this reason, results must be confirmed by other methods, including muscle biopsies, as well as genetic and other lab tests.

“As the global leader in newborn screening, we’re excited to play an integral role on this innovative program to advance detection of Duchenne,” said Petra Furu, PhD, PerkinElmer’s general manager of reproductive health. “Screening newborns ensures timely treatment for a disease that may otherwise go undetected for years, affording them a better chance at improved health outcomes.”

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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