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.
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.
“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.”