The chief medical officer at Cure SMA spoke to the ongoing work that the organization does in advocating for patients with spinal muscular atrophy, particularly for newborn screening.
“At this time, the technology has not evolved to be able to pick up those point mutations in that 5% that doesn’t get picked up by newborn screening.”
Every time a rare disease, such as spinal muscular atrophy (SMA), gets a medicine approved for use, advocacy organizations rejoice the addition of a therapeutic option. But the work does not stop there. As Mary Schroth, MD, chief medical officer, Cure SMA, noted in an interview with NeurologyLive, rare diseases tend to have needs that expand further than just new agents.
Schroth explained that even if the organization achieves one of its bigger goals—getting newborn screening initiated in every state in the US—somewhere around 5% of infants with SMA will still remain unidentified due to the limitations in the technology. Because of this, advocating for new methods of screening and better education for the identification of these patients has become a vital step in the process.
Additionally, Cure SMA has a “wish list” of sorts for the next few years. Schroth noted that the organization is actively working toward a number of items on this list and detailed the expectations she has for the targets that the organization has, ranging from improving access to medicines to collecting better patient data to improve individualized care.