TY - JOUR
T1 - Patterns of disease progression in type 2 and 3 SMA
T2 - Implications for clinical trials
AU - Mercuri, Eugenio
AU - Finkel, Richard
AU - Montes, Jacqueline
AU - Mazzone, Elena S.
AU - Sormani, Maria Pia
AU - Main, Marion
AU - Ramsey, Danielle
AU - Mayhew, Anna
AU - Glanzman, Allan M.
AU - Dunaway, Sally
AU - Salazar, Rachel
AU - Pasternak, Amy
AU - Quigley, Janet
AU - Pane, Marika
AU - Pera, Maria Carmela
AU - Scoto, Mariacristina
AU - Messina, Sonia
AU - Sframeli, Maria
AU - Vita, Gian Luca
AU - D'Amico, Adele
AU - van den Hauwe, Marleen
AU - Sivo, Serena
AU - Goemans, Nathalie
AU - Kaufmann, Petra
AU - Darras, Basil T.
AU - Bertini, Enrico
AU - Muntoni, Francesco
AU - de Vivo, Darryl C.
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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.
AB - 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.
KW - Hammersmith Functional Motor Scale
KW - Outcome measures
KW - Spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=84956949641&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84956949641&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2015.10.006
DO - 10.1016/j.nmd.2015.10.006
M3 - Article
AN - SCOPUS:84956949641
VL - 26
SP - 126
EP - 131
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 2
ER -