Abstract

INTRODUCTION: The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.

MATERIALS AND METHODS: Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53.

RESULTS: The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01).

DISCUSSION: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases.

CONCLUSION: Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.

Original languageEnglish
Pages (from-to)e0218683
JournalPLoS One
Volume14
Issue number6
DOIs
Publication statusPublished - 2019

Fingerprint

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons
Exons
mutation
Mutation
disease course
normal values
Disease Progression
clinical trials

Cite this

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. / on behalf on the International DMD group.

In: PLoS One, Vol. 14, No. 6, 2019, p. e0218683.

Research output: Contribution to journalArticle

@article{6d97a6564d0240079e9a1461b8485e72,
title = "Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53",
abstract = "INTRODUCTION: The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.MATERIALS AND METHODS: Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53.RESULTS: The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01).DISCUSSION: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases.CONCLUSION: Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.",
author = "{on behalf on the International DMD group} and Claudia Brogna and Giorgia Coratti and Marika Pane and Valeria Ricotti and Sonia Messina and Adele D'Amico and Claudio Bruno and Gianluca Vita and Angela Berardinelli and Elena Mazzone and Francesca Magri and Federica Ricci and Tiziana Mongini and Roberta Battini and Luca Bello and Elena Pegoraro and Giovanni Baranello and Previtali, {Stefano C} and Luisa Politano and Comi, {Giacomo P} and Sansone, {Valeria A} and Alice Donati and Enrico Bertini and Francesco Muntoni and Nathalie Goemans and Eugenio Mercuri",
year = "2019",
doi = "10.1371/journal.pone.0218683",
language = "English",
volume = "14",
pages = "e0218683",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "6",

}

TY - JOUR

T1 - Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

AU - on behalf on the International DMD group

AU - Brogna, Claudia

AU - Coratti, Giorgia

AU - Pane, Marika

AU - Ricotti, Valeria

AU - Messina, Sonia

AU - D'Amico, Adele

AU - Bruno, Claudio

AU - Vita, Gianluca

AU - Berardinelli, Angela

AU - Mazzone, Elena

AU - Magri, Francesca

AU - Ricci, Federica

AU - Mongini, Tiziana

AU - Battini, Roberta

AU - Bello, Luca

AU - Pegoraro, Elena

AU - Baranello, Giovanni

AU - Previtali, Stefano C

AU - Politano, Luisa

AU - Comi, Giacomo P

AU - Sansone, Valeria A

AU - Donati, Alice

AU - Bertini, Enrico

AU - Muntoni, Francesco

AU - Goemans, Nathalie

AU - Mercuri, Eugenio

PY - 2019

Y1 - 2019

N2 - INTRODUCTION: The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.MATERIALS AND METHODS: Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53.RESULTS: The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01).DISCUSSION: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases.CONCLUSION: Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.

AB - INTRODUCTION: The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.MATERIALS AND METHODS: Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53.RESULTS: The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01).DISCUSSION: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases.CONCLUSION: Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.

U2 - 10.1371/journal.pone.0218683

DO - 10.1371/journal.pone.0218683

M3 - Article

C2 - 31237898

VL - 14

SP - e0218683

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 6

ER -