Newborn Screening: Mucopolysaccharidosis 1—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 Mucopolysaccharidosis 1 (MPS 1).

What is MPS 1

MPS 1 is an autosomal recessive lysosomal disease (LD) affecting an estimated 1 case per 100,000 newborns. MPS 1 can be generally classified into two forms, severe and attenuated, based on the age of onset and severity though in reality there is a spectrum of severity from mild to severe. Severe MPS 1 has a chronic and progressive disease course involving multiple organs and causes joint disease, cardiorespiratory compromise, and death typically by 18 months without treatment. Attenuated MPS 1 exhibits similar symptoms; however, the rate of progression and severity of complications is delayed and patients rarely show neurological involvement beyond learning disabilities.

Specific treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). ERT is the mainstay of treatment for the attenuated form. However, HSCT, which allows for endogenous production of the missing enzyme, is used in the severe form because intravenous ERT does not penetrate the blood-brain barrier. Early presymptomatic detection of MPS 1 via newborn screening may result in improved neurocognitive outcomes through hematopoietic stem cell transplant (HSCT), even though improvement in mortality has not been established. Diagnosis is based on clinical findings, additional biochemical tests, and mutation analysis.

Nomination process for MPS1

The following timeline outlines the newborn screening panel nomination process:

• The Wisconsin Newborn Screening Program received a nomination (PDF) submitted on July 18, 2022, for the nomination of MPS 1. The Metabolic Subcommittee considered the nomination during a meeting on September 2, 2022 and recommended adding MPS 1 Disease to the Wisconsin newborn screening panel. The subcommittee forwarded their recommendation to the Umbrella Committee.
• The Newborn Screening Umbrella Committee considered the nomination during a meeting on December 2, 2022, and recommended adding MPS 1 to the newborn screening panel of conditions. The Umbrella Committee forwarded their recommendation to the Secretary's Advisory Committee on Newborn Screening (SACNBS).
• The SACNBS considered the nomination on March 3, 2023, and forwarded a recommendation report (PDF) to the Secretary of the Department of Health Services in support of adding MPS 1 to the newborn screening panel of conditions.
• The Secretary approved the recommendation (PDF) to add MPS 1 to the newborn screening panel of conditions on June 28, 2023.
• MPS 1 is currently going through the rulemaking process. The Wisconsin State Legislature, DHS' Office of Legal Counsel, the Office of Policy Initiatives and Budget, and Newborn Screening program staff are involved in the rulemaking process for adding conditions to Wisconsin’s Newborn Screening panel and increasing the Newborn Screening fee. The process can take up to 18 months or longer. Once the rulemaking process is complete and a condition is added, it will be announced and the communication will be shared with hospitals and others.

Learn more about Administrative rulemaking at DHS and the Wisconsin legislature.

If you have questions about the MPS 1 nomination process, please contact the Newborn Screening Program at DHSWICongenitalDisorders@dhs.wisconsin.gov.