September 26, 2018 / Advocacy,Care,Research

PPMD Continues Commitment to Duchenne Newborn Screening through Launch of Pilot in New York State

– PPMD Continues Commitment to U.S. Duchenne Newborn Screening Program –

For the last 4 years, PPMD has been leading a national effort to build a Newborn Screening (NBS) infrastructure for Duchenne in the U.S. aimed at developing the evidence to support Duchenne NBS.

Building on the work led by Dr. Jerry Mendell in the Ohio state NBS 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 6 children with Duchenne were positively identified, establishing evidence for a 2-tier screen at birth for Duchenne within the US newborn screening system.

Our Duchenne effort has convened experts and established the partnerships required to research, pilot, and implement nationwide NBS for Duchenne. PPMD’s Duchenne NBS efforts have included the expertise and input of experts and leaders within National Institutes of Health (NIH), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDC), American College of Medical Genetics and Genomics (ACMG), the broader NBS community, and the Duchenne community.

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, UC Davis, UCLA, Stanford, and UCSF. We are delighted that the yield from these efforts will now be applied to this pilot in a high birth-rate state.

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.

As such, today, Parent Project Muscular Dystrophy (PPMD) is proud to announce the initiation of the Duchenne Newborn Screening Pilot in New York State.

Introducing our Pilot Program in New York State

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 the Newborn Screening Translational Research Network (NBSTRN), a National Institute of  Child Health and Human Development, National Institutes of Health (NICHD/NIH) program housed at the American College of Medical Genetics and Genomics (ACMG), and the New York State Department of Health.

The pilot is being funded and led by a consortium of Duchenne industry partners with a commitment to early diagnosis and intervention in Duchenne. Consortium members include PTC Therapeutics, Sarepta Therapeutics, PerkinElmer, Solid Biosciences, Wave Life Sciences, and Pfizer, Inc. In addition, the pilot will be guided by a Steering Committee comprised of representatives from federal agencies, provider groups, and representatives from key Duchenne stakeholder communities.

Why Pursue Newborn Screening?

When our Duchenne community convened in Washington, DC in March at the PPMD Compass Meeting for a powerful day of testimonials from families about current experiences with Duchenne, parent after parent described their journeys from ‘parental concerns’ to ‘confirmed diagnosis.’

The descriptions included recollections of having worries ‘brushed aside by clinical providers’, months – and even years – of inconclusive tests and therapies, and diagnoses delivered with little information about Duchenne and no direction as to where to turn for expert care and support. And while this was not everyone’s experience, it is the rule, rather than the exception.

Our community’s goal through our newborn screening program is that no family ever be subjected to an unnecessary diagnostic odyssey again – and that every family receive timely, supportive resources at the time of diagnosis.

PPMD has been leading newborn screening efforts in Duchenne and our efforts have included leadership on the Newborn Screening Saves Lives Act, annual Duchenne-specific language within Appropriations and Report Language to ensure federal partners are focused on Duchenne NBS 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 Roadmap to Newborn Screening for Duchenne. Today, we are exceptionally grateful to the families, experts, and partners who have helped us to get this far – and have agreed to ‘lean in’ even further as we move the resources we’ve developed into the New York State pilot.

With two approved therapies – and a research pipeline filled with potential therapeutic interventions – NBS will eventually provide optimal opportunities for care and treatment in Duchenne. While we still have much work to be done, the initiation of this pilot is a critical next step.

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