Newborn Screening: Krabbe Disease - Nomination Process

Background

"Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability; failure to thrive; slowed development; unexplained fevers; and progressive muscle weakness, hearing loss and vision loss." (Source: Genetic and Rare Diseases website, National Institutes of Health.)

Nomination Process for Krabbe

The Wisconsin Department of Health Services received a nomination on April 9, 2015, to add Krabbe Disease to the Newborn Screening Panel of Conditions.

The Wisconsin Newborn Screening Metabolic Subcommittee submitted a review of the nomination on August 11, 2015.

The Wisconsin Newborn Screening Metabolic Subcommittee considered the nomination during its meeting on November 16, 2015. On a 7-0 vote, the committee forwarded the following recommendation to the Newborn Screening Umbrella Committee.

Krabbe disease is a progressive neurological disorder. By the time children are symptomatic there is no effective therapy. For those of us who have watched the decline of children afflicted by this disorder it is heart wrenching. For parents the feeling of powerlessness and the suggestion that an earlier diagnosis may have improved the outcome lead to a desire to prevent other parents from suffering in this way. Consequently it is logical to wish to identify this disorder by newborn screening and offer the hope of potential therapy.

However, as identified in the literature and evidence review attached, there remains significant problems with unacceptably high false positive rate of proposed screening methods. This problem is compounded by difficulty in distinguishing true positive cases from false positives with subsequent molecular or enzymatic testing. Furthermore since the evidence review there has been no further published studies demonstrating that HCST provides an improvement in quantity or quality of life over supportive care. Therefore at this time the metabolic subcommittee cannot support the addition of Krabbe disease to the state of Wisconsin newborn screening panel.

The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation of the Metabolic Subcommittee on December 4, 2015, and forwarded this recommendation to the Secretary's Advisory Committee on Newborn Screening.

The Secretary's Advisory Committee on Newborn Screening considered the nomination on January 25, 2016. The Advisory Committee sent their recommendation to the Secretary on August 3, 2016.

Based on the recommendation of the Secretary’s Advisory Committee, the Secretary is not moving forward with adding Krabbe to the Newborn Screening Panel of Conditions at this time.

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

Return to Newborn Screening.

Last Revised: June 8, 2020