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

Leading Duchenne Organization Partners with New York State; Hopes Early Diagnosis Will Lead to Early Interventions for Duchenne Therapies

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Parent Project Muscular Dystrophy (PPMD)

Oct 01, 2019, 13:12 ET

HACKENSACK, N.J., Oct. 1, 2019 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), 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," reported 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. Ms. 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."

To learn more about PPMD's work in NBS, click here.

About Parent Project Muscular Dystrophy

Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne—our mission is to end Duchenne.

We demand optimal care standards and strive to ensure every family has access to expert healthcare providers, cutting edge treatments, and a community of support. We invest deeply in treatments for this generation of Duchenne patients and in research that will benefit future generations. Our advocacy efforts have secured hundreds of millions of dollars in funding and won two FDA approvals.

Everything we do—and everything we have done since our founding in 1994—helps those with Duchenne live longer, stronger lives. We will not rest until we end Duchenne for every single person affected by the disease. Join our fight against Duchenne at EndDuchenne.org and follow PPMD on Facebook, Twitter, and YouTube.

About the Newborn Screening Translational Research Network (NBSTRN)

ACMG operates the NBSTRN a key component of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program. The NBSTRN provides resources for investigators engaged in newborn screening related research. This research includes new technology development, tools for developing the clinical history of genetic disorders, and new treatment development.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The ACMG provides education, resources and a voice for more than 2,300 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. The College's mission is to develop and sustain medical geneticsrelated initiatives in clinical and laboratory practice, education and advocacy. Four overarching strategies guide ACMG's work: 1) reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

SOURCE Parent Project Muscular Dystrophy (PPMD)