Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

Montes, J; McDermott, MP; Mirek, E; Mazzone, ES; Main, M; Glanzman, AM; Duong, T; ... Mercuri, E; + view all (2018) Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLoS ONE , 13 (6) , Article e0199657. 10.1371/journal.pone.0199657. Green open access

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Abstract

Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to examine longitudinal changes in the six-minute walk test (6MWT) and to evaluate whether age and SMA type 3 subtype are associated with decline in ambulatory function. Data from three prospective natural history studies were used. Seventy-three participants who performed the 6MWT more than once, at least 6 months apart, were included; follow-up ranged from 0.5–9 years. Only data from patients who completed the 6MWT were included. The mean age of the participants was 13.5 years (range 2.6–49.1), with 52 having disease onset before age 3 years (type 3A). At baseline, type 3A participants walked a shorter distance on average (257.1 m) than type 3B participants (390.2 m) (difference = 133.1 m, 95% confidence interval [CI] 71.8–194.3, p < 0.001). Distance walked was weakly associated with age (r = 0.25, p = 0.04). Linear mixed effects models were used to estimate the mean annual rate of change. The overall mean rate of change was -7.8 m/year (95% CI -13.6 –-2.0, p = 0.009) and this did not differ by subtype (type 3A: -8.5 m/year, type 3B: -6.6 m/year, p = 0.78), but it did differ by age group (< 6: 9.8 m/year; 6–10: -7.9 m/year; 11–19: -20.8 m/year; ≥ 20: -9.7 m/year; p = 0.005). Our results showed an overall decline on the 6MWT over time, but different trajectories were observed depending on age. Young ambulant SMA patients gain function but in adolescence, patients lose function. Future clinical trials in ambulant SMA patients should consider in their design the different trajectories of ambulatory function over time, based on age.

Type:	Article
Title:	Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1371/journal.pone.0199657
Publisher version:	https://doi.org/10.1371/journal.pone.0199657
Language:	English
Additional information:	© 2018 Montes et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Keywords:	Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, 6-Minute Walk Test, Clinical-Trials, SMA, Dystrophy, Fatigue, Multicenter, Cohort, Type-2
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/10053063