October 1, 2019 / Advocacy,Care,Research

First Baby Tested Via Parent Project Muscular Dystrophy’s Newborn Screening Pilot

Today, our community’s collective efforts have led to an incredible milestone for PPMD’s Duchenne Newborn Screening Pilot in New York State.

Today, the first babies are being SCREENED for Duchenne.

This is a significant milestone on our journey toward our vision of a world in which no child’s access to optimal Duchenne care, support, and intervention is ever delayed. We look forward to further developing and expanding this pilot with New York.

To learn more about PPMD’s work in Newborn Screening, click here.

PPMD’s Press Release

Parent Project Muscular Dystrophy (PPMD) announced that the first infant was screened for the disease as part of the organization’s Newborn Screening Pilot. This pilot testing program was launched in collaboration with a pre-competitive consortia including, the American College of Medical Genetics and Genomics (ACMG) and New York State. The goal of PPMD’s Newborn Screening Pilot is to prevent families from experiencing an unnecessary diagnostic odyssey again and ensuring that every family receive timely, supportive, accurate resources at the time of diagnosis.

According to Founding President and CEO, Pat Furlong, PPMD has been exploring newborn screening options for some time, and for the last five years has led a national effort to build a newborn screening infrastructure for Duchenne in the U.S. aimed at developing the evidence to support Duchenne newborn screening. Ms. Furlong says:

“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. Yet it is believed that therapeutic interventions will be optimally effective the earlier they can be offered. It is the goal of PPMD and the Duchenne community to help eliminate the diagnostic delay in Duchenne through a public health program that includes newborn screening. We are grateful to all of our collaborators, ACMG, through the NIH-funded Newborn Screening Translational Research Network (NBSTRN) and the State of New York for helping us launch this pilot.”

The pilot program – designed to set up, validate, and conduct a consented pilot screen for infants born at select hospitals in New York State – will utilize tools, resources, and expertise at PPMD and NBSTRN, a National Institute of  Child Health and Human Development, National Institutes of Health (NICHD/NIH) program housed at ACMG, and the New York State Department of Health.

The pilot is being funded and led by a consortium of Duchenne industry partners and PPMD with a commitment to early diagnosis and intervention in Duchenne. Consortium members include PTC Therapeutics, Sarepta Therapeutics, PerkinElmer, Solid Biosciences, Wave Life Sciences, Pfizer, Inc., and PPMD. In addition, the pilot is being guided by a Steering Committee comprised of representatives from health care professional groups and representatives from key Duchenne stakeholder communities including the American Academy of Pediatrics, the Centers for Disease Control and Prevention, the EveryLife Foundation, and the Genetic Alliance’s Expecting Health.

“We are excited to contribute to this ground-breaking effort to determine the benefit of screening newborns for Duchenne. An important goal for the NBSTRN is to facilitate research to establish the evidence base for conditions to be considered for nationwide screening. During this pilot the NBSTRN will facilitate the collection of longitudinal health data from the clinicians caring for the diagnosed newborns and enable the newborns’ parents to share their experiences during the pilot.” — Dr. Amy Brower, Associate Project Director of ACMG’s NBSTRN

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.

Annie Kennedy, PPMD’s Senior Vice President of Legislation & Public Policy, is leading this effort for the organization. Kennedy explains what went into the infrastructure of the pilot:

“PPMD convened experts and established the partnerships required to research, pilot, and implement nationwide newborn screening for Duchenne. This included the expertise and input of experts and leaders within federal agencies, newborn screening advocacy groups, the broader newborn screening community, and the Duchenne community.”

Ms. Kennedy goes on to explain how PPMD turned to leading experts in newborn screening technology to make sure the organization’s pilot would be as effective as possible from the start: “Our efforts have also included an extensive collaboration with the world’s leading scientific and technology developers to identify and refine the screening tests used in Duchenne newborn screening. Based on the experience of the NBS programs throughout the world, our efforts have included a study to determine which approach to screening has appropriate analytical/clinical validity and utility for use by a public health laboratory. These efforts were conducted in collaboration with the California Department of Health, PerkinElmer, and several of PPMD’s Certified Duchenne Care Centers in California (UC Davis, UCLA, Stanford, and UCSF). We have also collaborated with the CDC and the American Academy of Pediatrics (AAP) to develop diagnostic tools and resources for primary care providers and families. We are delighted that the yield from these efforts will now be applied to this pilot in New York, a high birth-rate state.”

Aside from launching the pilot program, PPMD’s newborn screening agenda includes active involvement on the reauthorization of the Newborn Screening Saves Lives 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.

Ms. Furlong reflects on today’s announcement:

“We are exceptionally grateful to the families, experts, and partners who have helped us to get to where we are today – our first newborn screened for Duchenne. Obviously no one wants their child to be diagnosed with Duchenne muscular dystrophy. But 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. Today is an important moment in our community’s history and we look forward to further developing and expanding this pilot with New York.”


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