Another Duchenne Newborn Screening win—every baby born in New York State to be screened for Duchenne muscular dystrophy!
WASHINGTON, Oct. 25, 2023 /PRNewswire/ — In a monumental stride towards improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state. This remarkable milestone comes after years of dedicated advocacy by PPMD, in collaboration with partners and families, to break down barriers to treatment and care for the Duchenne community.
Beginning in 2024, every one of the approximately 210,000 babies born in New York State annually will undergo newborn screening for Duchenne, ensuring not only early diagnosis but also equitable access to care. This program’s implementation is projected to identify at least 21 babies with Duchenne each year, significantly improving the prognosis for affected individuals and their families.
New York State has paved the path in advancing Duchenne newborn screening, notably through a pilot program carried out from 2019 to 2021. The pilot study was a collaborative effort between PPMD, the New York State Newborn Screening (NYS NBS) program, Northwell Health Hospitals, New York-Presbyterian Hospitals, the National Institutes of Health (NIH)-supported Newborn Screening Translational Research Network (NBSTRN) housed at the American College of Medical Genetics and Genomics (ACMG), along with generous funders. The pilot identified four infants with Duchenne or Becker muscular dystrophy and one female carrier within New York State and helped PPMD’s Duchenne newborn screening package pass the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Nomination and Prioritization earlier this year.
New York State is now the second state, after Ohio, to mandate newborn screening for Duchenne. This milestone represents a significant advancement in the broader effort to expand newborn screening for Duchenne to other states.
Niki Armstrong, PPMD’s Senior Director of Community Research and Genetic Services, passionately emphasizes the significance of this bill being signed into law in NYS, stating, “Families with newborns identified through the newborn screening program will benefit from monitoring their child’s development, receiving appropriate physical and speech therapy, genetic counseling, and carrier screening for family members. Early initiation of care will allow these families to establish strong relationships with their care teams and explore all available treatment options. With universal newborn screening, diagnosis becomes equitable. Families will not have a three-year diagnostic odyssey or learn of the diagnosis at age six, when eligibility for an approved gene therapy treatment is no longer an option.”
PPMD remains unwavering in its commitment to breaking down barriers related to the diagnosis, care, and treatment of individuals living with Duchenne muscular dystrophy at all stages of life. This commitment extends to supporting families with newborns identified through newborn screening by providing educational resources, connecting them with experienced peer mentors, and educating healthcare providers involved in the screening process. New York is home to two Certified Duchenne Care Centers, the University of Rochester Medical Center and Stony Brook, ensuring that babies diagnosed with Duchenne in NYS receive optimal care and support.
Lauren Stanford, PPMD’s Director of Advocacy, acknowledges the profound and far-reaching impact of the Duchenne community in the passage of this groundbreaking legislation. She warmly states, “We extend our heartfelt gratitude to the determined families and dedicated clinicians who provided compelling testimony to the New York State legislature and committees throughout this process. It is your unwavering dedication, passion, and tireless efforts that have played a truly pivotal and transformative role in achieving this historic and momentous success.”
PPMD has been building the infrastructure for early identification of newborns with Duchenne—including a robust therapeutic pipeline, regulatory infrastructure, and clinical care network and guidelines—since its inception and preparing for the implementation of NBS for Duchenne for almost a decade.
To learn more about PPMD’s work in newborn screening, click here.
About Parent Project Muscular Dystrophy
Duchenne is a 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 six 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.
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SOURCE Parent Project Muscular Dystrophy (PPMD)