First Infant Recently Screened for Most Prevalent Type of Muscular Dystrophies
WALTHAM, Mass. – PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today 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. “We believe that potential Duchenne treatments will benefit from early interventions and are grateful to collaborators like PerkinElmer, ACMG, through the NIH-funded Newborn Screening Translational Research Network (NBSTRN), and the State of New York for their participation at this 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. Early diagnosis will mean early intervention.”
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, Ph.D., 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.”
For more information on PerkinElmer’s GSP Neonatal CK-MM assay and other newborn screening solutions, please visit: newbornscreening.perkinelmer.com.
PerkinElmer enables scientists, researchers and clinicians to address their most critical challenges across science and healthcare. With a mission focused on innovating for a healthier world, we deliver unique solutions to serve the diagnostics, life sciences, food and applied markets. We strategically partner with customers to enable earlier and more accurate insights supported by deep market knowledge and technical expertise. Our dedicated team of about 13,000 employees worldwide is passionate about helping customers work to create healthier families, improve the quality of life, and sustain the wellbeing and longevity of people globally. The Company reported revenue of approximately $2.8 billion in 2018, serves customers in more than 180 countries, and is a component of the S&P 500 index. Additional information is available through 1-877-PKI-NYSE, or at www.perkinelmer.com.