Today, families with spinal muscular atrophy (SMA) have new hope. Life-saving therapies — and a robust pipeline of other promising treatments on the horizon — are now available for children diagnosed with SMA. Early diagnosis and early treatment are key.
Early Treatment
See why early diagnosis and access to treatment are essential SMArt Moves for these families and children with SMA. And if you’re a healthcare professional, learn what you can do as you evaluate children with SMA:
Until recently, there were no treatment options available for children diagnosed with spinal muscular atrophy (SMA), a serious and life-threatening neuromuscular disease. In December 2016, the FDA announced the approval of Spinraza®, a treatment developed by Biogen and Ionis, to treat all types of SMA. Then, in May 2019, the FDA announced the approval of Zolgensma®, a treatment developed by Novartis Gene Therapies, to also treat all types of SMA in patients who are under two years of age. Finally, in August 2020, the FDA announced the approval of Evrysdi®, a treatment developed by Genentech/Roche, to treat SMA in adults and children 2 months and older, and updated in 2022 to include all ages.
Cure SMA provided the very first research funding for these drug development programs.
Learn more about these life-saving treatments and others in development.
For additional guidance on SMA treatment for newly diagnosed families, click here.
What About Newborn Screening?
Cure SMA recognizes that early diagnosis and treatment occurs most effectively with universal newborn screening. SMA was added to the Recommend Uniform Screening Panel (RUSP) in July 2018. As each state works to implement SMA screening within their newborn screening panel, providers must continue to be vigilant for the early signs to optimize outcomes.
Additionally, even in states in which SMA has been added to the panel, we encourage providers to remain watchful, as approximately 3% to 5% of individuals with SMA will not be identified by newborn screening due to SMN1 point mutations. Thus, clinical evaluation and consideration of the SMA diagnosis will remain important once universal inclusion of SMA within newborn screening panels is achieved.
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