NNPDF works alongside other rare disease organizations to expand that list to include Niemann-Pick disease — Acid Sphingomyelinase Deficiency (ASMD) and Niemann-Pick disease type C.
Newborn screening is the practice of testing every baby in their first days of life for a defined set of disorders that can affect long-term health or survival if left undetected. A few drops of blood are taken from the newborn’s heel before hospital discharge and tested for genetic, endocrine, and metabolic conditions.
Each state runs its own newborn screening program. The federal government maintains a Recommended Uniform Screening Panel (RUSP) as a model list, but states ultimately decide what their own labs test for, which is why coverage varies from state to state.
Of more than 7,000 known rare diseases, only a small number are included on the RUSP, roughly three dozen core conditions, a number that shifts as new ones are added. For treatable conditions, early detection, often before symptoms appear, can change the entire course of a child’s life, sparing families the “diagnostic odyssey” of years spent searching for an answer.
Niemann-Pick disease is not one disease but two distinct conditions, with different biology, different treatment landscapes, and different paths onto newborn screening panels.
NNPDF is one voice in a larger, collaborative effort. We don’t lead every initiative, but we show up consistently as a partner.
An FDA-approved enzyme replacement therapy exists, and a validated screening method is available — making state-by-state inclusion realistic today.
NNPDF advances this as a founding partner organization of the Lysosomal Storage Disease Advocacy Coalition (LSDAC) — alongside Testing for Tots, the Gaucher Community Alliance, and other patient organizations pursuing screening for ASMD, Fabry, Gaucher, and other lysosomal diseases.
NPC now has three FDA-approved treatments addressing its neurologic manifestations. That shift changes the advocacy case: earlier detection now means earlier access to treatment, not just earlier awareness — strengthening the case for adding NPC to state and federal screening panels.
NNPDF supports this work as an active member of Firefly Fund’s NPC Newborn Screening Working Group, RARE Foundation’s Advocacy Congress and Global Genes’ Global Alliance, and a member organization of the International Niemann-Pick Disease Alliance (INPDA), which coordinates a global newborn screening roadmap for NPC.
Acid sphingomyelinase deficiency (ASMD) now has an FDA-approved treatment. Niemann-Pick type C (NPC) has active research programs. Yet neither is on the federal Recommended Uniform Screening Panel, so every state decides on its own.
states screen every newborn for ASMD
states screen for NPC statewide
states with no screening and no pending action
Newborn screening advocacy · ASMD and NPC · September 2026
Screening ASMD
Pilot, ASMD + NPC
Approved, in rulemaking
Bill in committee
On paper only or unconfirmed
No screening or pending action
Every newborn is tested for ASMD as part of the routine heel-stick panel.
A consented research pilot screens for ASMD and/or NPC at participating hospitals — not yet a statewide mandate.
ASMD was approved for the state panel; screening begins once rulemaking and lab onboarding are complete.
Legislation to add ASMD (often alongside other lysosomal disorders) is active in committee.
April 2026
ASMD was officially approved for inclusion on Wisconsin’s Newborn Screening Panel, the state’s most recent addition to a small but growing list of states screening for the condition. The approval followed review by Wisconsin’s Metabolic Subcommittee and State Advisory Committee, and the disorder is now moving through the state’s administrative rulemaking process before screening begins.
April 2023
NNPDF board and staff joined the Lysosomal Storage Disease Advocacy Coalition (LSDAC) at the Massachusetts State House to support HD 314, legislation that would add ASMD and five other lysosomal storage disorders to the state’s newborn screening panel. A family shared their son’s ASMD journey with legislators as part of the testimony.
Explore the full timeline of milestones, roundtables, and research updates from 2019 to 2022.
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