A big barrier to developing and testing new treatments for rare health conditions is finding enough participants for medical research studies. This barrier is especially difficult when studying treatments that are expected to work best before symptoms start to show. Finding enough research participants is a major challenge because there is often no way to determine who has a rare health condition unless symptoms have already appeared. In many cases, researchers and patient advocates are caught in a classic catch-22 situation–data cannot be obtained without screening every newborn, but there are not enough data to justify screening everyone.
Consider, for example, spinal muscular atrophy (SMA), a life-threatening disorder that affects about 1 in every 10,000 babies. Several medical research studies are currently underway to test experimental therapies for SMA. These therapies have the best chance of success if started before symptoms appear, but most studies are being conducted with children who already show signs of SMA, possibly too late to have an impact. If any one of these studies needed just 30 participants to study how the treatment works before symptoms appear, they would need to screen approximately 300,000 babies under 2 months of age just to identify enough who are eligible to participate. Currently, there is no way to screen that many babies for rare conditions that are not part of current newborn screening. If such a resource were available, this research could proceed much faster.
Early Check will find rare health conditions before symptoms start to show. We will offer voluntary screening in a way that benefits children, supports families, and paves the way for researchers to find out how many children have the condition, learn more about its early stages, and find out how it affects well-being over time. Ultimately, we hope that Early Check will help decrease the amount of time it takes to move treatments into medical settings where they can help patients and families.
Learn more about the conditions we plan to include in the pilot and how we selected them.
Early Check is still under development. We're planning the program right now with support from the John Merck Fund and the National Center for Advancing Translational Sciences at the National Institutes of Health. We plan to start offering Early Check screening in spring 2018 to a limited number of North Carolina communities. We will then extend screening to the entire state of North Carolina the following winter (2018-2019). Check back here for a more detailed timeline in the fall of 2017.
Our goal is to offer voluntary screening to all 120,000 or so families who give birth in North Carolina each year. The pilot program will give us an opportunity to test and improve our procedures for screening babies, returning results to parents, and monitoring children and families over time to study the benefits of early treatment and other services.