We are pleased to announce that the National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) has agreed to fund a pilot study of newborn screening (NBS) for spinal muscular atrophy (SMA). This pilot will take place in two states, Utah and Colorado, and will provide vital information confirming the efficacy and accuracy of the SMA screening technology, as well as the ability to provide crucial follow-up care to identified babies and support for impacted families.

NBS is an issue of critical importance to the SMA community because it holds tremendous promise for assisting with early interventions, and the development of improved and more standardized care protocols for all patients living with SMA. It also may assist in the development of potential drug therapies. Natural history, preclinical, and preliminary clinical data all suggest that potential therapies will demonstrate the greatest effectiveness when delivered presymptomatically. NBS is a key tool in providing early intervention for SMA infants and could facilitate the enrollment of presymptomatic children into clinical trials for therapies that would treat all SMA patients.

The SMA community has been engaged for several years in attempting to add SMA to the NBS panels in the 50 states by seeking approval of the U.S. Health & Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). The SMA community submitted a formal nomination form to the ACHDNC in June 2008, making the case for why NBS in SMA is compelling:

1. The relatively high rate of occurrence of the disease in the general population
2. The severity of the disease
3. The existence of a highly sensitive diagnostic test that has proven its utility on a large-scale newborn population basis
4. The opportunity that newborn screening will provide for early administration of proactive medical treatments that, if provided pre-symptomatically, will increase the odds of improved outcomes
5. The impact newborn screening will have immediately upon longevity and burden

Identifying SMA-affected individuals at birth also eliminates the pain and cost of unnecessary testing that otherwise would take place in attempting to diagnose the affected patient. This could eliminate the “diagnostic odyssey” many families embark upon and will provide parents with earlier genetic counseling prior to having a second affected child, which frequently occurs when diagnosis is delayed.

The ACHDNC reviewed the SMA community’s nomination form, but formally voted in November 2008 not to proceed with a formal workgroup review. Two reasons were provided by the reviewers: (1) at the present time, no treatment exists for SMA that could significantly improve the lives of those newborns identified to have SMA, and (2) the screening technology and related follow-up care protocols have not been pilot tested in a state newborn screening laboratory.

The recently approved pilot project addresses the latter point and will move the SMA community a step closer to achieving the milestones established by the policymakers at the ACHDNC. Ultimately, this will accelerate development of therapies to treat individuals affected by SMA.