scholarly journals Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

2020 ◽  
Vol 35 (7) ◽  
pp. 643-653 ◽  
Author(s):  
Erik Landfeldt ◽  
Rachel Thompson ◽  
Thomas Sejersen ◽  
Hugh J. McMillan ◽  
Janbernd Kirschner ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Life Expectancy ◽  
Meta Analysis ◽  
Life Expectancy At Birth

scholarly journals Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 14 (8) ◽  
pp. 798
Author(s):  
Carlos Pascual-Morena ◽  
Iván Cavero-Redondo ◽  
Alicia Saz-Lara ◽  
Irene Sequí-Domínguez ◽  
Maribel Lucerón-Lucas-Torres ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Growth Factor ◽  
Muscular Dystrophy ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Meta Analysis ◽  
Growth Factor Beta ◽  
Meta Analyses ◽  
Tgfβ Pathway

The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGFβ pathway, including the latent transforming growth factor beta binding protein 4 (LTBP4) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of ambulation (LoA) and cardiac function in patients with DMD. Meta-analyses were conducted for the hazard ratio (HR) of LoA for each genetic variant. A subgroup analysis was performed in patients treated exclusively with glucocorticoids. Eight studies were included in the systematic review and four in the meta-analyses. The systematic review suggests a protective effect of LTBP4 haplotype IAAM (recessive model) for LoA. It is also suggested that the SPP1 rs28357094 genotype G (dominant model) is associated with early LoA in glucocorticoids-treated patients. The meta-analysis of the LTBP4 haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67–0.90). No association with LoA was observed for the SPP1 rs28357094. The LTBP4 haplotype IAAM is associated with a later LoA, especially in the Caucasian population, while the SPP1 rs28357094 genotype G could be associated with a poor response to glucocorticoids. Future research is suggested for SPP1 rs11730582, LTBP4 rs710160, and THBS1 rs2725797.

scholarly journals Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012910
Author(s):  
Jonathan Broomfield ◽  
Micki Hill ◽  
Michela Guglieri ◽  
Michael Crowther ◽  
Keith Abrams
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Life Expectancy ◽  
Large Scale ◽  
Individual Patient Data ◽  
Meta Analysis ◽  
Research Literature ◽  
Patient Data ◽  
Mortality Data ◽  
Kaplan Meier

Objective:Duchenne Muscular Dystrophy (DMD) is a rare progressive disease, which is often diagnosed in early childhood, and leads to considerably reduced life-expectancy; due to its rarity, research literature and patient numbers are limited. To fully characterise the natural history, it is crucial to obtain appropriate estimates of the life-expectancy and mortality rates of patients with DMD.Methods:A systematic review of the published literature on mortality in DMD up until July 2020 was undertaken, specifically focusing on publications in which Kaplan-Meier (KM) survival curves with age as a time-scale were presented. These were digitised and individual patient data (IPD) reconstructed. The pooled IPD were analysed using the Kaplan-Meier estimator and parametric survival analysis models. Estimates were also stratified by birth cohort.Results:Of 1177 articles identified, 14 publications met the inclusion criteria and provided data on 2283 patients, of whom 1049 had died. Median life-expectancy was 22.0 years (95% CI: 21.2, 22.4). Analyses stratifying by three time-periods in which patients were born showed markedly increased life-expectancy in more recent patient populations; patients born after 1990 have a median life-expectancy of 28.1 years (95% CI 25.1, 30.3).Conclusions:This paper presents a full overview of mortality across the lifetime of a patient with DMD, and highlights recent improvements in survival. In the absence of large-scale prospective cohort studies or trials reporting mortality data for patients with DMD, extraction of IPD from the literature provides a viable alternative to estimating life-expectancy for this patient population.

scholarly journals Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Salvatore Crisafulli ◽  
Janet Sultana ◽  
Andrea Fontana ◽  
Francesco Salvo ◽  
Sonia Messina ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Meta Analysis ◽  
Global Epidemiology

scholarly journals Effectiveness of pharmacological treatments in Duchenne muscular dystrophy: a protocol for a systematic review and meta-analysis

BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e029341 ◽  
Author(s):  
Carlos Pascual Morena ◽  
Vicente Martinez-Vizcaino ◽  
Celia Álvarez-Bueno ◽  
Ruben Fernández Rodríguez ◽  
Estela Jiménez López ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Meta Analysis ◽  
Cochrane Collaboration ◽  
Risk Of Bias ◽  
Walking Distance ◽  
Pharmacological Treatments ◽  
Registration Number ◽  
The Cochrane Collaboration

IntroductionIn recent years, important advances have been made in the treatment of Duchenne muscular dystrophy (DMD). This protocol proposes a methodology for carrying out a systematic review and meta-analysis that aims to: (1) improve the evidence of the benefits of different pharmacological treatments in boys with DMD, and (2) compare the benefit of treatments specifically aimed at delaying the progression of disease in the functional outcomes.Methods and analysisThis protocol is guided by the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) and by the Cochrane Collaboration Handbook. A thorough selection of the literature will be done through the MEDLINE, EMBASE and Web of Science databases. The search will be conducted in English and Spanish. The Risk of Bias 2.0 tool from the Cochrane Collaboration will be used to assess the risk of bias. A narrative synthesis of the data will be performed. Meta-analysis will be conducted for effect of treatment on the 6 min walking distance (6MWD), North Star Ambulatory Assessment and Timed Functional Tests. Subgroup analyses will be performed by age or baseline values of the 6MWD, and overall bias.Ethics and disseminationThe approval of an ethical committee is not required. All the included trials will comply with the current ethical standards and the Declaration of Helsinki. The results of this proposed systematic review and meta-analysis will provide a general overview and evidence concerning the effectiveness of pharmacological treatments in Duchenne muscular dystrophy. Findings will be disseminated to academic audiences through peer-reviewed publications, as well as to clinical audiences, patients’ associations and policy makers, and may influence guideline developers in order to improve outcomes for these patients.PROSPERO registration numberCRD42018102207

Molecular diagnosis of Duchenne Muscular Dystrophy: Systematic review and meta-analysis

2021 ◽  
Vol 429 ◽  
pp. 118404
Author(s):  
Carlos Alva-Diaz ◽  
Marco Malaga Julca ◽  
Peggy Martinez-Esteban ◽  
Paula Moran Ballon ◽  
Fabian Chavez Ecos ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Molecular Diagnosis ◽  
Meta Analysis

scholarly journals Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Yuko Shimizu-Motohashi ◽  
Terumi Murakami ◽  
En Kimura ◽  
Hirofumi Komaki ◽  
Norio Watanabe
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Meta Analysis ◽  
Exon Skipping

A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy

2014 ◽  
Vol 24 (6) ◽  
pp. 482-491 ◽  
Author(s):  
Jean K. Mah ◽  
Lawrence Korngut ◽  
Jonathan Dykeman ◽  
Lundy Day ◽  
Tamara Pringsheim ◽  
...  
Keyword(s):  
Systematic Review ◽  
Muscular Dystrophy ◽  
Meta Analysis ◽  
Becker Muscular Dystrophy

scholarly journals Gait deviations in Duchenne muscular dystrophy—Part 1. A systematic review

2018 ◽  
Vol 62 ◽  
pp. 247-261 ◽  
Author(s):  
Marije Goudriaan ◽  
Marleen Van den Hauwe ◽  
Joyce Dekeerle ◽  
Louise Verhelst ◽  
Guy Molenaers ◽  
...  
Keyword(s):  
Systematic Review ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy
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