6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

نویسندگان

  • Marika Pane
  • Elena S. Mazzone
  • Maria Pia Sormani
  • Sonia Messina
  • Gian Luca Vita
  • Lavinia Fanelli
  • Angela Berardinelli
  • Yvan Torrente
  • Adele D'Amico
  • Valentina Lanzillotta
  • Emanuela Viggiano
  • Paola D'Ambrosio
  • Filippo Cavallaro
  • Silvia Frosini
  • Luca Bello
  • Serena Bonfiglio
  • Roberta Scalise
  • Roberto De Sanctis
  • Enrica Rolle
  • Flaviana Bianco
  • Marlene Van der Haawue
  • Francesca Magri
  • Concetta Palermo
  • Francesca Rossi
  • Maria Alice Donati
  • Chiara Alfonsi
  • Michele Sacchini
  • Maria Teresa Arnoldi
  • Giovanni Baranello
  • Tiziana Mongini
  • Antonella Pini
  • Roberta Battini
  • Elena Pegoraro
  • Stefano C. Previtali
  • Sara Napolitano
  • Claudio Bruno
  • Luisa Politano
  • Giacomo P. Comi
  • Enrico Bertini
  • Lucia Morandi
  • Francesca Gualandi
  • Alessandra Ferlini
  • Nathalie Goemans
  • Eugenio Mercuri
چکیده

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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عنوان ژورنال:

دوره 9  شماره 

صفحات  -

تاریخ انتشار 2014