PerkinElmer Provides Newborn Screening Assay for DMD

Jan. 15, 2020

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, announced that it is providing the newborn screening assay for Parent Project Muscular Dystrophy’s (PPMD’s) Newborn Screening Pilot for Duchenne Muscular Dystrophy (Duchenne). PPMD is a nonprofit organization leading the fight to end Duchenne. PerkinElmer’s GSP Neonatal Creatine Kinase –MM (CK-MM) kit recently received U.S. Food & Drug Administration (FDA) approval. This solution is the first commercially available assay for screening newborns affected by Duchenne muscular dystrophy (DMD).

Duchenne is an X-linked recessive disease and is the most common pediatric onset form of muscular dystrophy, affecting approximately 1 in 5,000 live male births. The disorder is caused by mutations in the dystrophin gene. Without dystrophin, a patient’s muscles progressively weaken and deteriorate, ultimately resulting in premature death from poor respiratory function and cardiac failure.

“PPMD is excited that the team at PerkinElmer will be providing the newborn screening assay for our recently launched newborn screening program,” said Pat Furlong, President & CEO, PPMD, the largest and most comprehensive nonprofit organization in the U.S. focused on ending Duchenne.

New York State recently screened the first infant for Duchenne as part PPMD's Newborn Screening Pilot. PerkinElmer is collaborating with the New York State Department of Health on a two-year project that will screen approximately 100,000 infants using its GSP CK-MM assay. Results from the state’s Duchenne screening pilot will provide options for new and early treatments, helping to lay the framework for further Duchenne newborn screening programs in the U.S. and globally.

“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, General Manager, Reproductive Health, PerkinElmer. “Screening newborns ensures timely treatment for a disease that may otherwise go undetected for years, affording them a better chance at improved health outcomes.”

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