Newborn Screening for Krabbe disease has been in progress for over twenty years. On January 30, 2024, with a vote of 10-3, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) officially recommended that Krabbe disease be added to the federal Recommended Uniform Screening Panel (RUSP).
The RUSP is an evidence-based list of conditions that have an accurate screening test and an available treatment that must occur in early childhood. Most states rely on this list when deciding which conditions to include on their own Newborn Screening panels.
This is the third time the ACHDNC has considered Newborn Screening for Krabbe disease since 2009. In February 2023, the committee voted against adding it with a vote of 7-7. Hunter’s Hope Foundation led the efforts each time and adjusted the nomination, leading to success. Perhaps even more importantly, this experience has pushed the ACHDNC to reevaluate its processes to better meet the needs of the Rare Disease community.
Newborn Screening for Krabbe disease currently exists in eleven states with Minnesota actively working to implement in 2024.
- New York
- New Jersey
- South Carolina
New Mexico and Louisiana have laws in place to screen for Krabbe disease but there are hurdles to overcome: New Mexico uses Oregon’s Newborn Screening lab, so it cannot screen for Krabbe until Oregon does; Louisiana is already behind on adding RUSP conditions so adding a non-RUSP condition has been a challenge.
The ACHDNC will now send a formal recommendation to the Secretary of Health and Human Services for his approval. This can take up to six months. Once his approval is given, the clock will begin ticking for states with RUSP-alignment policies in place.
As of now, there are fifteen states with RUSP-alignment policies in place, and none of them currently include Krabbe disease on their panels. The addition of Krabbe to the RUSP means that we will probably see every state screening for Krabbe disease by 2028!
LDNBS has developed a strategic plan for the expansion of Newborn Screening that can help you more clearly see what RUSP addition means for your state.
You can also see state Newborn Screening data in spreadsheet form here.