title: 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Marika
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authors.lastname: Pane
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Elena S
authors.initials: ES
authors.lastname: Mazzone
authors.affiliation: Biostatistics Unit, Department of Health Sciences, University of Genoa, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Sormani
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Gian Luca
authors.initials: GL
authors.lastname: Vita
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Fanelli
authors.affiliation: Child Neurology and Psychiatry Unit, "C. Mondino" Foundation, Pavia, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Berardinelli
authors.affiliation: Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Yvan
authors.initials: Y
authors.lastname: Torrente
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.affiliation: Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Lanzillotta
authors.affiliation: Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Viggiano
authors.affiliation: Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: D'Ambrosio
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Cavallaro
authors.affiliation: Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Frosini
authors.affiliation: Department of Neurosciences, University of Padua, Padua, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Bello
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Bonfiglio
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Scalise
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: De Sanctis
authors.affiliation: Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy.
authors.forename: Enrica
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authors.lastname: Rolle
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Flaviana
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authors.lastname: Bianco
authors.affiliation: Pediatric Neurology KU Gasthuisberg, Leuven, Belgium.
authors.forename: Marlene
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authors.lastname: Van der Haawue
authors.affiliation: Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Magri
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Palermo
authors.affiliation: Pediatric Neurology KU Gasthuisberg, Leuven, Belgium.
authors.forename: Francesca
authors.initials: F
authors.lastname: Rossi
authors.affiliation: Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Chiara
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authors.lastname: Alfonsi
authors.affiliation: Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
authors.forename: Michele
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authors.lastname: Sacchini
authors.affiliation: Developmental Neurology Unit, Istituto Neurologico "Besta", Milan, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Arnoldi
authors.affiliation: Developmental Neurology Unit, Istituto Neurologico "Besta", Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Baranello
authors.affiliation: Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Mongini
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Pini
authors.affiliation: Department of Developmental Neuroscience, Stella Maris Institute, University of Pisa, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.affiliation: Department of Neurosciences, University of Padua, Padua, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Pegoraro
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Stefano C
authors.initials: SC
authors.lastname: Previtali
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Sara
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authors.lastname: Napolitano
authors.affiliation: Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: Claudio
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authors.lastname: Bruno
authors.affiliation: Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy.
authors.forename: Luisa
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authors.lastname: Politano
authors.affiliation: Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Neuromuscular Disease and Immunology Unit, Istituto Neurologico "Besta", Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.affiliation: Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.affiliation: Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.affiliation: Pediatric Neurology KU Gasthuisberg, Leuven, Belgium.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Goemans
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Eugenio
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authors.lastname: Mercuri
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D013997:Time Factors; D016138:Walking
chemical_list: D016189:Dystrophin