6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.

<h4>Objective</h4>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 wh...

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Autores principales: 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
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Publicado: Public Library of Science (PLoS) 2014
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spelling oai:doaj.org-article:fe77c61b1a644415a147e462fe2068012021-11-18T08:38:19Z6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.1932-620310.1371/journal.pone.0083400https://doaj.org/article/fe77c61b1a644415a147e462fe2068012014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24421885/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.Marika PaneElena S MazzoneMaria Pia SormaniSonia MessinaGian Luca VitaLavinia FanelliAngela BerardinelliYvan TorrenteAdele D'AmicoValentina LanzillottaEmanuela ViggianoPaola D'AmbrosioFilippo CavallaroSilvia FrosiniLuca BelloSerena BonfiglioRoberta ScaliseRoberto De SanctisEnrica RolleFlaviana BiancoMarlene Van der HaawueFrancesca MagriConcetta PalermoFrancesca RossiMaria Alice DonatiChiara AlfonsiMichele SacchiniMaria Teresa ArnoldiGiovanni BaranelloTiziana MonginiAntonella PiniRoberta BattiniElena PegoraroStefano C PrevitaliSara NapolitanoClaudio BrunoLuisa PolitanoGiacomo P ComiEnrico BertiniLucia MorandiFrancesca GualandiAlessandra FerliniNathalie GoemansEugenio MercuriPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 1, p e83400 (2014)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
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
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
description <h4>Objective</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.
format article
author 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
author_facet 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
author_sort Marika Pane
title 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
title_short 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
title_full 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
title_fullStr 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
title_full_unstemmed 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
title_sort 6 minute walk test in duchenne md patients with different mutations: 12 month changes.
publisher Public Library of Science (PLoS)
publishDate 2014
url https://doaj.org/article/fe77c61b1a644415a147e462fe206801
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