Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Neuromuscul Disord. 2016 Feb;26(2):126-31. doi: 10.1016/j.nmd.2015.10.006. Epub 2015 Dec 3.

Abstract

The aim of the study was to establish 12-month changes in the Hammersmith Functional motor scale in a large cohort of SMA patients, to identify patterns of disease progression and the effect of different variables. 268 patients were included in this multicentric study. Their age ranged between 2.5 and 55.5 years at baseline, 68 were ambulant and 200 non-ambulant. The baseline scores ranged between 0 and 66 (mean 23.91, SD 20.09). The 12-month change was between -14 and +9 (mean -0.56, SD 2.72). Of the 268 patients, 206 (76.86%) had changes between -2 and +2 points. Ambulant and non-ambulant subjects had a different relationship between baseline values and age (p for age X ambulation interaction = 0.007). There was no association with age in ambulant subjects, while there was a significant heterogeneity at different age for non-ambulant patients (p < 0.001). The 12-month change (adjusted for baseline) was not associated with age in ambulant patients (p = 0.34), but it was significantly different among various age groups in non-ambulant patients. Our results suggest that there are different profiles of progression in ambulant and non-ambulant patients, and that age may play an important role in the progression of non-ambulant patients.

Keywords: Hammersmith Functional Motor Scale; Outcome measures; Spinal muscular atrophy.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Clinical Trials as Topic
  • Disease Progression*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mobility Limitation*
  • Retrospective Studies
  • Spinal Muscular Atrophies of Childhood / physiopathology*
  • Young Adult