Today, the FDA authorized the marketing of the first test to aid in newborn screening for Duchenne. As you know, PPMD has been leading the effort for newborn screening in Duchenne. In October, the first baby was screened through PPMD’s Duchenne Newborn Screening Pilot in New York State. As a part of PPMD’s effort to build an infrastructure for nationwide newborn screening for Duchenne that would include readiness for implementing screening within each state, a collaboration between Perkin Elmer, PPMD, the California Department of Health, and five clinical sites began in 2017. Today’s news is a great achievement, the direct result of that collaboration, and yet another exciting leap for Newborn Screening in Duchenne.

This is a hopeful time in Duchenne therapy development. We have a robust experimental therapy pipeline targeting multiple physiological pathways and multiple Duchenne product reviews currently underway. But we know that these promising therapeutic interventions will be the most effective the earlier they can be offered.

When PPMD formed 25 years ago, we knew that we needed to eliminate the diagnostic delay in Duchenne if we were going to end Duchenne. Today, we are one step closer to creating stronger tomorrows by working to identify babies that are born with Duchenne in order to intervene as early as possible.

We are grateful to the FDA who recognized the value of this validation effort and like PPMD, believe that early screening can help identify individuals who need additional follow up or treatment.

We would also like to thank Annie Kennedy and Michele Puryear for their leadership from day one. Their tireless passion and belief in the critical importance of early detection helped PPMD navigate a long and complicated process.

How the Kit Works

The GSP Neonatal Creatine Kinase-MM kit that the agency authorized today is intended to aid in screening newborns for Duchenne. Newborn screening is a series of tests to help health care professionals identify serious diseases and conditions shortly after birth. As part of this screening, a newborn screening card is used to collect a small amount of blood from a prick of an infant’s heel, sometimes called a heel stick. The collected, dried blood samples are used to test for a variety of diseases and conditions.

A History with Newborn Screening

Building on the work led by Dr. Jerry Mendell in the Ohio State Newborn Screening Pilot which concluded in 2012, PPMD endeavored to learn from the best practices of that pilot and refine the systems further such that they could be replicated in a state with a high birthrate – and eventually nationwide. In Dr. Mendell’s study, nearly 60,000 babies were screened throughout the state and six children with Duchenne were positively identified, establishing evidence for a two-tier screen at birth for Duchenne within the US newborn screening system.

Aside from launching the pilot program, PPMD’s newborn screening agenda includes active involvement on the passage of the Newborn Screening Saves Lives Reauthorization Act, annual Duchenne-specific language within Appropriations and Report Language to ensure federal partners are focused on Duchenne newborn screening efforts, engagement with the federal Advisory Committee on Heritable Disorders for Newborns and Children, and leading the National Duchenne Newborn Screening Initiative which has included the development of published care standards for newborns, ethical considerations for Duchenne NBS, and the publication of a A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.

What’s Next?

PerkinElmer will be providing further updates in the coming weeks and PPMD will of course keep the community updated.