On July 2, 2017, Health and Human Services (HHS) Secretary Alex Azar approved a recommendation for genetic screening of all newborns for spinal muscular atrophy (SMA). The approval follows a recommendation from the Advisory Committee on Heritable Disorders in Newborns and Children to add screening for SMA to the Recommended Uniform Screening Panel (RUSP). The RUSP is a list of disorders that HHS recommends states screen for as part of their state universal newborn screening programs.
SMA is a genetic disorder characterized by loss of motor neurons, leading to weakness and wasting of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of SMA, the muscles used for breathing and swallowing are affected. This devastating disorder affects approximately 1 in 10,000 births and is the most common genetic cause of infant mortality. SMA is caused by deletions or mutations in a gene that leads to a deficiency of survival motor neuron (SMN) protein; this protein is critical for the maintenance of motor neurons. The severity of SMA is directly related to the amount of survival motor neuron protein.
Screening for SMA is relatively inexpensive, however the only SMA treatment currently approved by the FDA, nusinersen, is estimated to cost $750,000 for the first year and $375,000 annually thereafter. Nusinersen (Spinraza; Biogen) increases production of fully functional SMN protein. The drug is administered via lumbar puncture; maintenance dosing of nusinersen is administered every 4 months, after an initial loading dose period.
The addition of SMA to the RUSP is a recommendation, not a requirement; individual states will have discretion on implementation of the recommendation. Proponents of SMA screening suggest that early treatment with Spinraza is essential. In juxtaposition, others caution that while the drug is FDA approved as an orphan drug, published evidence is too limited to determine whether the drug is effective in improving outcomes before the onset of symptoms.
Consider one of the solutions provided by Hayes through our Knowledge Center, the Health Technology Brief (HTB). The HTB is a health technology assessment (HTA) that focuses on new and emerging technologies in the early stages of dissemination or existing technologies that are being used for new applications. HTBs evaluate the peer-reviewed published literature to determine the safety and effectiveness of medical devices, technologies, pharmaceuticals, and procedures. HTBs assign a Hayes Rating, offering providers and payers a grade for the technology in question. The Rating reflects the strength and direction of the evidence and takes into account efficacy, safety, impact on health outcomes and patient management, indications for use, and for which patients the technology is best suited. The depth of evaluation that we perform is just one of the reasons the Hayes Rating is the industry standard in the payer market, 83% of whom use our services.
That is why it has been critical for us to maintain our fiercely unbiased commitment to evidence. We strive to improve the delivery of healthcare through evidence that is without influence, and we seek to do it in a manner that’s efficient and cost-effective. To learn more about the effectiveness of Spinraza in patients with SMA, access the recent Hayes HTB, Nusinersen (Spinraza; Biogen) for Spinal Muscular Atrophy.