How Access to SMA Treatment Varies Globally and by Insurance Type

Newly approved therapies for spinal muscular atrophy (SMA) hold the potential to modify the disease course and extend patients’ life spans, but research shows that patients have variable likelihoods of receiving these therapies based on their country of residence, age, and insurance coverage. These findings were presented at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference in Dallas, Texas, held March 16-19, 2025.

One poster undertook a review of the current state of global access to novel therapeutics for SMA, noting that they bring promise for patients but “are expensive, are not available across the world, and can potentially widen the gaps in health care disparities in SMA patients.”¹ After years of policy advocacy, all 50 US states now screen newborns for SMA,² enabling earlier access to treatment for affected babies, but recent estimates suggest that just 7% of newborns are screened globally.³ Also, the poster notes, telemedicine can help connect patients with neuromuscular specialists, but the infrastructure and resources to facilitate this are not consistent in rural or less wealthy areas.

Individuals experiencing insurance denials for spinal muscular atrophy treatment appear to face a broader pattern of compounded delays and increased financial burden. | Image Credit: © G_stockerthailand - stock.adobe.com

New data show that “SMA is not only a disease of childhood anymore,” the poster says,¹ as more patients with SMA live to adulthood, but there are major gaps in knowledge about care strategies for adult patients with the disease. The difficulty of transitioning from pediatric to adult care was discussed in depth during a session held during the MDA conference, in which panelists pointed to lessons that can be learned from other disease states.⁴

Considering these disparities, the authors of the poster called for multifaceted approaches to making SMA treatment more evenly accessible.¹ “Modifying existing health care business plans, soliciting fundraising, changing health care regulations, and even international laws and regulations on pharmaceutical developments and drug pricing [will be] critical,” they wrote.

Another poster delved into the outcomes when patients’ attempts to access SMA treatment are denied coverage by their health insurers.⁵ This research used data from a Cure SMA survey of adult patients with SMA or caregivers of children with the condition in the US and Puerto Rico. After excluding those who did not have insurance (n = 3) and those with an unknown history of insurance denials (n = 13), the final sample included 319 respondents.

Despite similarities in race, ethnicity, household income, and SMN2 copy number between those who had experienced a denial for an FDA-approved SMA treatment and those who had not, the researchers noted that employer-based insurance was more common in those with insurance denials (69.5%) than in those who did not report denial (48.3%). The most common reasons for denying coverage were “medication not covered” and “services not deemed medically necessary.”

The poster also detailed the paths through the appeals process for the survey respondents. Of the 92 adults and 70 caregivers who reported appeals, 84.8% and 75.7% were successful. But these appeals cost them precious time, with 19.2% of adults and 13.2% of caregivers reporting that appeals delayed treatment by more than 8 weeks.

Finally, the authors noted that more patients who experienced insurance denials reported encountering barriers to scheduling an appointment with a specialist and having difficulty paying medical bills, indicating that these individuals are facing a broader pattern of compounded delays and increased financial burden.

“The journey to treatment can be stifled by insurance coverage restrictions leading to delays that can ultimately impact clinical outcomes and quality of life,” the researchers concluded. “Industry, health care providers, and patient advocacy groups may leverage this data to further engage payers regarding the financial and logistical burdens of insurance coverage restrictions and barriers for the SMA community.”

References

1. Koutsioumpa C, Darras BT, Griggs R, Roy B. Addressing the global disparities in access to life-saving medications in spinal muscular atrophy. Presented at: 2025 MDA Clinical & Scientific Conference; March 16-18, 2025; Dallas, TX. Abstract P388.

2. Newborn screening for SMA. Cure SMA. Accessed March 18, 2025. https://www.curesma.org/newborn-screening-for-sma/

3. Vrščaj E, Dangouloff T, Osredkar D, Servais L; SMA NBS World Study Group. Newborn screening programs for spinal muscular atrophy worldwide in 2023. J Neuromuscul Dis. 2024;11(6):1180-1189. doi:10.1177/22143602241288095

4. Mattina C. Solving the transition conundrum as more children with muscular dystrophy live to adulthood. AJMC^®. March 17, 2025. Accessed March 18, 2025. https://www.ajmc.com/view/solving-the-transition-conundrum-as-more-children-with-muscular-dystrophy-live-to-adulthood

5. Eisenman L, Curry M, Belter M, Friesz M, Schroth M. Exploration of patient and caregiver burden due to insurance denials and appeals for spinal muscular atrophy (SMA) treatment and healthcare access. Presented at: 2025 MDA Clinical & Scientific Conference; March 16-18, 2025; Dallas, TX. Abstract V422.