What Do SMA Caregivers Want?

Safety and breathing support are the top priorities for caregivers of patients with spinal muscular atrophy (SMA) when evaluating treatment options, outweighing factors like improved motor function or treatment location, according to a new study.

Anish Patel

The research, published in Plos One and led by Anish Patel of Novartis, surveyed 20 caregivers of children with SMA types 1 and 2 to understand how they value different aspects of treatment. Caregivers identified the risk of severe adverse events and the need for permanent ventilation as the most critical factors in treatment decisions. Access to treatment, including cost and availability, ranked third.

"These findings suggest that caregivers prefer a treatment with reduced clinical burden and risk in which the cost is covered and treatment is available in the short term," the study authors wrote.

Novartis, the study sponsor, is the manufacturer of Zolgensma (onasemnogene abeparvovec-xioi), one of three disease-modifying treatments for SMA that have been approved by the FDA. The other therapies are Biogen’s Spinraza (nusinersen) and Roche’s Evrysdi (risdiplam). The availability of these medications, along with early screening and presymptomatic treatment shortly after birth, has transformed the treatment landscape, allowing babies with SMA to achieve normal motor milestones.

The study included mostly parents of children with SMA type 1 (75%), with all patients under age 2. All children were receiving at least one disease-modifying treatment.

When evaluating treatment administration methods, caregivers strongly preferred one-time intravenous infusion over other options. The second choice was one-time spinal injection, while daily oral medication ranked third. Multiple spinal injections per year was the least preferred option. For treatment facilities, 60% of caregivers preferred receiving care at general neurology departments closer to home rather than traveling to specialized neuromuscular centers.

The researchers noted several study limitations, including the small sample size and potential bias from recruiting through patient organizations. Additionally, all participants were from the U.S., where newborn screening and access to newer therapies are more common than in other countries.

"The understanding of what caregivers perceive as important treatment attributes and the amount of risk they may be willing to accept for treatment benefit could provide important contextual information for decision-makers," the authors wrote.