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

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

Eugenio Mercuri  1 , Richard Finkel  2 , Jacqueline Montes  3 , Elena S Mazzone  4 , Maria Pia Sormani  5 , Marion Main  6 , Danielle Ramsey  6 , Anna Mayhew  7 , Allan M Glanzman  8 , Sally Dunaway  3 , Rachel Salazar  3 , Amy Pasternak  9 , Janet Quigley  9 , Marika Pane  4 , Maria Carmela Pera  4 , Mariacristina Scoto  6 , Sonia Messina  10 , Maria Sframeli  10 , Gian Luca Vita  10 , Adele D'Amico  11 , Marleen van den Hauwe  12 , Serena Sivo  4 , Nathalie Goemans  12 , Petra Kaufmann  3 , Basil T Darras  9 , Enrico Bertini  11 , Francesco Muntoni  6 , Darryl C De Vivo  3
Affiliations
Multicenter Study

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

Eugenio Mercuri et al. Neuromuscul Disord. 2016 Feb.

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.

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Figures

Fig. 1
Fig. 1
HFMSE 12-month changes: individual details according to age.
Fig. 2
Fig. 2
Baseline values of the Hammersmith scale according to age in ambulant and non-ambulant children.
Fig. 3
Fig. 3
Scatter of baseline values of the Hammersmith scale.
Fig. 4
Fig. 4
Average 12-month change of the Hammersmith scale according to age classes and ambulation.
See this image and copyright information in PMC

References

    1. Kayadjanian N., Burghes A., Finkel R.S. SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. Orphanet J Rare Dis. 2013;8:44. - PMC - PubMed
    1. Mercuri E., Bertini E., Iannaccone S.T. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443–452. - PubMed
    1. Krosschell K.J., Maczulski J.A., Crawford T.O., Scott C., Swoboda K.J. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord. 2006;16(7):417–426. - PMC - PubMed
    1. Krosschell K.J., Scott C.B., Maczulski J.A. Reliability of the modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve. 2011;44(2):246–251. - PMC - PubMed
    1. O'Hagen J.M., Glanzman A.M., McDermott M.P. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007;17(9–10):693–697. - PubMed

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