Key Points
- To describe real-world utilization patterns, sequencing, and switching intervals among patients with spinal muscular atrophy treated with multiple disease-modifying therapies in the United States.
- Retrospective cohort analysis of the Komodo Health Research Database (2016–2024) identifying patients with spinal muscular atrophy receiving nusinersen, onasemnogene abeparvovec (OAV), or risdiplam.
- Assessed first-line therapy distribution and subsequent switching among infants initiating treatment at age ≤ 2 years post-widespread newborn screening (2022–2024; N = 257).
- Evaluated treatment sequences and time between initiations for patients receiving multiple disease-modifying therapies starting on or after May 2019 (N = 341).
- Among infants starting treatment at age ≤ 2 years (2022–2024, N = 257), 64.6% initiated OAV, 24.9% risdiplam, and 10.5% nusinersen; subsequent switching to a second therapy occurred in 12.0%, 20.3%, and 55.6% of patients, respectively.
- Among all patients receiving multiple therapies (2019–2024, N = 341), initial therapies were nusinersen (75.4%), risdiplam (15.2%), and OAV (9.4%), with an overall median switch interval of 18.9 months.
- In the subgroup of multi-therapy patients initiating treatment at age ≤ 2 years during 2022–2024 (n = 44), all risdiplam-treated and most nusinersen-treated patients transitioned to OAV, with a median interval of 13.4 months.
Structured PICO
PPopulation341 patients with spinal muscular atrophy receiving multiple disease-modifying therapies and 257 children initiating any therapy at age ≤2 years, identified from a US claims database.
EExposureDisease-modifying therapies (DMTs) including nusinersen, onasemnogene abeparvovec (OAV), and risdiplam
OOutcomeFirst DMT distribution and the proportion of patients receiving a second DMT
Following widespread newborn screening, onasemnogene abeparvovec had the highest utilization as a first-line therapy in SMA patients aged ≤ 2 years, with the lowest rate of switching to a second disease-modifying therapy.
Limitations
- Claims data lack clinical measures such as motor function, SMA severity, or genetic modifiers.
- Claims data do not capture the specific rationale underlying treatment decisions.
- Potential misclassification of SMA type using claims-based algorithm.
- Open claims may not cover providers outside the database, potentially underestimating treatment utilization.
- Dates of services in the birth year were masked as January 1 for privacy, leading to exclusion of some patients.