Assessing Treatment Options and Improving Utilization for Spinal Muscular Atrophy: Basil Darras, MD

WATCH TIME: 3 minutes

"The only reason to avoid one of these treatments would be, for example, in the case of gene therapy, liver dysfunction. If the baby has liver disease, we cannot give them [that] therapy."

For patients with spinal muscular atrophy (SMA), there are 3 approved disease-modifying treatments available. They include nusinersen (Spinraza; Biogen), AVXS-101 (Zolgensma; Novartis), and risdiplam (Evrysdi; Genentech), which came into the market in 2016, 2019, and 2020, respectively. Each are a bit different, as nusinersen and risdiplam both increase the amount of full-length SMN protein from SMN2 and are approved for all SMA types. Zolgensma, the only approved gene replacement therapy for SMA, is greenlit for all patients with SMA up to 2 years of age regardless of copy number.

All three therapies can be used in infants younger than 2 months, a critical time in treatment which may lead to better long-term outcomes. After decades of no approved DMTs, the recent advances in therapeutics—more specifically, gene therapy—have brought new life to patients with SMA, a genetic disease characterized by devastating neurodegeneration and muscle wasting.

To learn more about the decisions that go into treatment selection for each patient, NeurologyLive^® sat down with neuromuscular expert Basil Darras, MD. Darras, associate neurologist-in-chief at Boston Children’s Hospital, answered questions on how the community is building towards treatment optimization and improved quality of life, as well as whether combination approaches may represent a more effective option.