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Clinical Trial
. 2014 Jan 8;9(1):e83400.
doi: 10.1371/journal.pone.0083400. eCollection 2014.

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

Marika Pane  1 , Elena S Mazzone  1 , Maria Pia Sormani  2 , Sonia Messina  3 , Gian Luca Vita  3 , Lavinia Fanelli  1 , Angela Berardinelli  4 , Yvan Torrente  5 , Adele D'Amico  6 , Valentina Lanzillotta  7 , Emanuela Viggiano  8 , Paola D'Ambrosio  8 , Filippo Cavallaro  3 , Silvia Frosini  9 , Luca Bello  10 , Serena Bonfiglio  11 , Roberta Scalise  1 , Roberto De Sanctis  1 , Enrica Rolle  12 , Flaviana Bianco  1 , Marlene Van der Haawue  13 , Francesca Magri  5 , Concetta Palermo  1 , Francesca Rossi  13 , Maria Alice Donati  14 , Chiara Alfonsi  1 , Michele Sacchini  14 , Maria Teresa Arnoldi  15 , Giovanni Baranello  15 , Tiziana Mongini  12 , Antonella Pini  11 , Roberta Battini  9 , Elena Pegoraro  10 , Stefano C Previtali  16 , Sara Napolitano  16 , Claudio Bruno  7 , Luisa Politano  8 , Giacomo P Comi  5 , Enrico Bertini  6 , Lucia Morandi  17 , Francesca Gualandi  18 , Alessandra Ferlini  18 , Nathalie Goemans  13 , Eugenio Mercuri  1
Affiliations
Clinical Trial

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

Marika Pane et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: Dr. Pane, E. Mazzone report no disclosures. Dr. Sormani: serves on a scientific advisory board for Biogen Idec. has received funding for travel or speaker honoraria from Merck Serono; serves as consultant for Merck Serono, Actelion Pharmaceuticals Lts. Biogen Idec, and Synthon; and serves on the speakers' bureaus of Teva Pharmaceutical Industries Ltd., Merck Serono, and Biogen Idec. Dr. Messina reports no disclosures. Dr.Vita serves a san Associate Editor for Neurological Sciences. L. Fanelli, Dr. Berardinelli, Dr. Torrente, Dr. D'Amico, V. Lanzillotta, Dr. Viggiano, Dr. D'Ambrosio, F. Cavallaro, S. Frosini, Dr. Bello, Dr. Bonfiglio, Dr. Scalise, R. De Sanctis, E. Rolle, Dr. Bianco, Dr. Van der Haawue, Dr. Magri, Dr. Palermo, F. Rossi, Dr. Donati, Dr. Sacchini, Dr. Arnoldi, Dr Baranello report no disclosures. Dr. Mongini has received funding for travel from Genzyme Corporation. Dr. Pini, Dr. Battini report no disclosures. Dr. Pegoraro has served on a scientific advisory board for BioMarin Pharmaceutical Inc.; has received funding for travel from Genzyme Corporation; and has received speaker honoraria from MedaPharma. Dr. Previtali, Dr. Bruno, Dr. Napolitano, Dr. Politano report no disclosures. Dr. Comi: is site PI for the PTC extension study of Ataluren in DMD and for the GSK study on exon skipping. Dr. Bertini is site PI for the PTC extension study of Ataluren in DMD, for the GSK study on exon skipping. Dr. L. Morandi, Dr. F. Gualandi, Dr. A. Ferlini, Dr. N. Goemans reports no discorures, Dr. Mercuri is site PI for the PTC extension study of Ataluren in DMD,for the GSK study on exon skipping. He has acted as advisory board for Acceleron Pharma, Shire and PTC Therapeutics, Inc./Genzyme Corporation. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

Figures

Figure 1
Figure 1. Baseline values of 6MWD: in each graph the individual results obtained in individual subgroups (eligible for skipping exon 44, 45, 51 and 53) are plotted against those found in the whole DMD color.
Figure 2
Figure 2. Mean raw scores (left panel) and % predicted (right panel) of 6MWD in individual subgroups.
Figure 3
Figure 3. Twelve month changes of 6MWD: in each graph the individual results obtained in individual subgroups (eligible for skipping exon 44, 45, 51 and 53) are plotted against those found in the whole DMD color.
Figure 4
Figure 4. Mean 12 month changes (left panel) and % predicted (right panel) of 6MWD in individual subgroups.
See this image and copyright information in PMC

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References

    1. Laing NG, Davis MR, Bayley K, Fletcher S, Wilton SD (2011) Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies. Clin Biochem Rev 32: 129–134. - PMC - PubMed
    1. Aartsma-Rus A, den Dunnen JT, van Ommen GJ (2010) New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann N Y Acad Sci 1214: 199–212. - PubMed
    1. Muntoni F, Wood MJ (2011) Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov 10: 621–637. - PubMed
    1. Foster H, Popplewell L, Dickson G (2012) Genetic therapeutic approaches for Duchenne muscular dystrophy. Hum Gene Ther 23: 676–687. - PubMed
    1. van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, et al. (2007) Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357: 2677–2686. - PubMed

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