There is shortened endpoint-free survival in spinal muscular atrophy (SMA) type 1 patients and to a lesser extent in type 2a patients.
The age at which mechanical ventilation is required in these patients may be a more accurate surrogate marker of death than the existing criteria of ≥16h/d of ventilation.
Why this matters
This study is pivotal in providing benchmark data on the probability of survival in patients with SMA - only survival in patients with the type 1 subtype has been studied thoroughly. Also, the data may prove a critical reference point for future trials investigating treatment efficacy.