New York State Department of Health Becomes First in The Nation to Implement Universal Newborn Screening for Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a Rare, Progressive Genetic Disorder
Pilot Study Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ALBANY, N.Y. (November 12, 2025) — The New York State Department of Health today announced that, as of September 12, 2025 through September 2026, all newborns in New York are now screened for metachromatic leukodystrophy (MLD), a rare and devastating genetic disorder. Through September 2026, approximately 200,000 infants will be screened as part of a one-year pilot study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). New York is the first state in the nation to implement universal newborn screening for this condition.
"As science and medicine changes, so do we. Metachromatic leukodystrophy is a rare progressive, genetic disorder, which normally lead to death by the time the child was 5 or 6 yet is now amendable to treatment with a novel gene therapy recently approved by the FDA.," State Health Commissioner Dr. James McDonald said. "New York is now the first state to implement this screening of all newborns, which will help protect and improve the health of our children in the earliest stages of life."
Metachromatic leukodystrophy is a rare, progressive, genetic disorder characterized by the toxic accumulation of lipids called sulfatides in cells. This buildup destroys the protective myelin sheath surrounding nerves in the central and peripheral nervous systems, leading to severe neurological symptoms.
Metachromatic leukodystrophy has been provisionally added to the New York State newborn screening panel. Testing is conducted as part of a baby's routine newborn screening shortly after birth. Infants who screen positive for metachromatic leukodystrophy will be referred to specialists across the state for diagnostic testing, evaluation and treatment.
A novel ex vivo gene therapy (Lenmeldy) was approved by the U.S. Food and Drug Administration (FDA) in March 2024 for the treatment of metachromatic leukodystrophy. This groundbreaking therapy has been shown to extend life expectancy in pre-symptomatic individuals with the late-infantile form of the disease and to lessen the cognitive and physical effects of early-onset forms. Early detection through newborn screening is now essential, as infants with metachromatic leukodystrophy show no symptoms at birth—and most children diagnosed later will not be eligible for treatment with Lenmeldy.
The Department remains committed to identifying and treating conditions that, without early detection and intervention, can have permanent and life-altering effects on infants and families.
Since launching in 1965, New York State's Newborn Screening Program has tested more than 10 million infants. Early detection and treatment have saved countless lives and improved outcomes for children across the state.
The Newborn Screening Program remains a national leader in innovation, improving screening for conditions on the panel, performing pilot screening for new conditions, and expanding its screening panel to include newly recommended conditions. The Program also partners closely with hospitals, pediatricians, and families to provide follow-up testing, counseling, support services, and treatment as needed.
More information about the New York State Newborn Screening Program can be found here.
