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New York State Department of Health announces Duchenne muscular dystrophy newborn screening pilot

Long Island Jewish Medical Center.

Wadsworth Center program to screen 100,000 babies

ALBANY, N.Y. —

The New York State Department of Health today announced that the Wadsworth Center, New York State’s public health laboratory, will begin recruiting families to screen 100,000 babies born at 11 hospitals in and around New York City for Duchenne muscular dystrophy (DMD), with parental consent. The initiative is a pilot program launched in partnership with Parent Project Muscular Dystrophy, which is providing $2.5 million in funding.

“The Wadsworth Center’s Newborn Screening Program continues to drive national efforts to screen newborns for congenital conditions that can have detrimental effects on their health,” said New York State Health Commissioner Dr. Howard Zucker. “With public-private partnerships like this one, we expand our resources and scientific talent pool while conducting important public health interventions.”

The Newborn Screening Program provides testing for every baby born in the state for more than 50 conditions, using a few drops of blood collected from babies before they leave the hospital. The screenings are conducted at the Wadsworth Center.

DMD is a genetic condition that affects the large muscles and is more frequently found in boys. It affects approximately one in 5,000 boys. They become wheelchair-bound during childhood and typically survive into their early 20s. Symptoms in girls are rare and usually less severe, but they will also be referred for evaluation and diagnosis if they screen positive.

Northwell hospitals to participate

This pilot study is funded by Parent Project Muscular Dystrophy via a consortia of biotech companies engaged in developing treatments for DMD. Northwell Health (including Long Island Jewish Medical Center, North Shore University Hospital, Maimonides Medical Center, Lenox Hill Hospital, Staten Island University Hospital and Southside Hospital) and New York Presbyterian Hospitals (including Weill Cornell Medical Center, Columbia University Medical Center, Lower Manhattan Hospital, NY Presbyterian Queens and Allen Hospital) are participating in the study.

Coordinators at participating hospitals will request consent from new parents to screen their newborns. Infants who screen positive will be evaluated by a neuromuscular specialist and monitored for outcomes in collaboration with the Newborn Screening Translational Research Network. Recently two therapies for DMD have been FDA-approved, and there are many more in the pipeline with ongoing clinical trials.

Data generated by the study will be presented to the federal Health & Human Services Advisory Committee on Heritable Disorders in Newborns and Children for review. The committee will determine whether the data supports recommending DMD for universal screening.

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