The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country. Since adding any new condition to these lists would mean that any newborn would routinely be screened for a certain disease, it’s essential to demonstrate that the benefit to public health is greater than any burden to a family or to the larger public health system.

The federal government maintains a list of diseases and conditions that they have determined meet the standards for being included. That list, known as the Recommended Uniform Screening Panel or the RUSP, serves as the “Gold Standard” for states across the country that look to the federal government for advice when considering what to add to their own screening lists. In order to be included on the RUSP, a sponsoring organization must complete a nomination form that answers very specific questions regarding a condition’s “readiness” to be added. One of the questions asks for evidence that demonstrates the urgency of treatment. The application reviewers need to know how essential it is to identify a particular condition at birth so that an intervention can take place. Specifically, the RUSP nomination form asks, “How soon after birth must treatment be initiated to be effective?”

For NPC, this is an important and challenging question to answer. While there are several clinical trials ongoing to investigate the efficacy and safety of possible medications to treat NPC, we are still awaiting a first approval in the United States. Related to the gap that exists in an FDA-approved therapy, is the answer to the question of “when to treat.” To help gather the necessary evidence and expert opinion on this matter, the Firefly Newborn Screening Working Group has initiated the help of a Clinical Roundtable. This Roundtable is comprised of experts who are working to gain consensus regarding the timing for initiating treatment for patients positively identified with NPC following newborn screening. It’s important work that the Working Group not only believes will be essential for the quest for newborn screening, but also in the quest to improve clinical care for patients.