Newborn Screening: Acid Sphingomyelinase Deficiency (ASMD) condition —Newborn Screening Panel Nomination
Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.
The purpose of this page is to show providers the nomination process for Acid Sphingomyelinase Deficiency (ASMD) condition —Newborn Screening Panel Nomination.
What is Acid Sphingomyelinase Deficiency (ASMD)?
ASMD is an ultra-rare autosomal recessive lysosomal disorder caused by biallelic pathogenic variants in the SMPD1 gene resulting in a deficiency of the enzyme acid sphingomyelinase. ASMD is a progressive multisystemic disease characterized by accumulation of sphingomyelin within tissues including the spleen, liver, lung, bone marrow and lymph nodes with more severe disease impacting neurons.
At the severe end of the spectrum, ASMD is rapidly progressive and results in premature death (type A or infantile neurovisceral). At the less severe end, type B or chronic visceral ASMD is characterized by primarily visceral disease with minimal or absent neurologic symptoms. An intermediate phenotype (A/B or chronic neurovisceral) is characterized by both visceral and neurologic disease (ataxia, peripheral neuropathy and developmental delay) resulting in earlier mortality than type B, often in childhood.
Enzyme replacement therapy (ERT) is FDA approved for ASMD and dramatically improves the course of ASMD Type B Individuals with Types A and A/B appear to show improved quality of life with ERT.
Nomination process for ASMD disease
- February 25, 2024: The Wisconsin Newborn Screening program received a nomination (PDF) to add ASMD to the newborn screening panel.
- October 18, 2024: The Wisconsin Newborn Screening Metabolic Subcommittee had a meeting where it considered the nomination. The subcommittee tabled the nomination pending more information and forwarded this suggestion to the Wisconsin Newborn Screening Umbrella Committee.
- December 6, 2024: The Wisconsin Newborn Screening Umbrella Committee agreed with the recommendation and tabled the ASMD nomination. They forwarded the recommendation to the Secretary’s Advisory Committee on Newborn Screening (SACNBS).
- March 14, 2025: The SACNBS agreed with the recommendation, tabling the nomination pending more information.
- April 11, 2025: The Metabolic Subcommittee reviewed more information within the ASMD nomination and recommended tabling the nomination pending more information for criteria 3, 6, 8 and 9.
- May 1, 2025: The Umbrella Committee agreed that more information was needed for criteria 3, 6, 8 and 9 and tabled the nomination pending more information. The recommendation was forwarded to the SACNBS.
- September 19, 2025: The SACNBS agreed that more information was needed for criteria 3, 6, 8 and 9 and tabled the nomination pending more information.
- October 17, 2025: The Metabolic Subcommittee recommended adding ASMD (PDF) to the Wisconsin NBS panel as the condition met all the required criteria.
- December 5, 2025: The Umbrella Committee agreed with the recommendation of the Metabolic Subcommittee to add ASMD to the NBS panel and forwarded their recommendation to the SACNBS.
- March 6, 2026: The SACNBS agreed with the recommendation to add ASMD to the NBS panel and forwarded a report (PDF) to the Wisconsin Department of Health Services (DHS) Secretary.
- April 23, 2026: The Secretary approved the recommendation (PDF) to add ASMD to the Newborn Screening Panel.
ASMD is moving through the rulemaking process.
Learn more about Administrative rulemaking at DHS and the Wisconsin legislature. If you have questions about the nomination process, contact the Newborn Screening Program at DHSNewbornScreening@dhs.wisconsin.gov.