TY - JOUR
T1 - 6 minute walk test in Duchenne MD patients with different mutations
T2 - 12 month changes
AU - Pane, Marika
AU - Mazzone, Elena S.
AU - Sormani, Maria Pia
AU - Messina, Sonia
AU - Vita, Gian Luca
AU - Fanelli, Lavinia
AU - Berardinelli, Angela
AU - Torrente, Yvan
AU - D'Amico, Adele
AU - Lanzillotta, Valentina
AU - Viggiano, Emanuela
AU - D'Ambrosio, Paola
AU - Cavallaro, Filippo
AU - Frosini, Silvia
AU - Bello, Luca
AU - Bonfiglio, Serena
AU - Scalise, Roberta
AU - De Sanctis, Roberto
AU - Rolle, Enrica
AU - Bianco, Flaviana
AU - Van Der Haawue, Marlene
AU - Magri, Francesca
AU - Palermo, Concetta
AU - Rossi, Francesca
AU - Donati, Maria Alice
AU - Alfonsi, Chiara
AU - Sacchini, Michele
AU - Arnoldi, Maria Teresa
AU - Baranello, Giovanni
AU - Mongini, Tiziana
AU - Pini, Antonella
AU - Battini, Roberta
AU - Pegoraro, Elena
AU - Previtali, Stefano C.
AU - Napolitano, Sara
AU - Bruno, Claudio
AU - Politano, Luisa
AU - Comi, Giacomo P.
AU - Bertini, Enrico
AU - Morandi, Lucia
AU - Gualandi, Francesca
AU - Ferlini, Alessandra
AU - Goemans, Nathalie
AU - Mercuri, Eugenio
PY - 2014/1/8
Y1 - 2014/1/8
N2 - Objective: In the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period. Methods: The 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons. Results: At baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant. Conclusions: even if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients.
AB - Objective: In the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period. Methods: The 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons. Results: At baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant. Conclusions: even if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients.
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U2 - 10.1371/journal.pone.0083400
DO - 10.1371/journal.pone.0083400
M3 - Article
C2 - 24421885
AN - SCOPUS:84897449030
VL - 9
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 1
M1 - e83400
ER -