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Current and Emerging Therapies for Duchenne Muscular Dystrophy

  • Neuromuscular Disorders (C Fournier, Section Editor)
  • Published:
Current Treatment Options in Neurology Aims and scope Submit manuscript

Abstract

Purpose of review

The purpose of this review is to summarize the current and emerging therapies for Duchenne muscular dystrophy (DMD).

Recent findings

Coinciding with new standardized care guidelines, there are a growing number of therapeutic options to treat males with DMD. Treatment of the underlying pathobiology, such as micro-dystrophin gene replacement, exon skipping, stop codon read-through agents, and utrophin modulators showed variable success in animal and human studies. Symptomatic therapies to target muscle ischemia, enhance muscle regeneration, prevent muscle fibrosis, inhibit myostatin, and reduce inflammation are also under investigation.

Summary

DMD is a complex, heterogeneous degenerative disease. The pharmacological and technological achievements made in recent years, plus timely supportive interventions will likely lead to an improved quality of life for many individuals with DMD.

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Abbreviations

6MWT:

6-Min walk test

AAV:

Adeno-associated virus

ACE:

Angiotensin-converting enzyme

AON:

Antisense oligonucleotide

BMD:

Becker muscular dystrophy

CGH:

Comparative genomic hybridization microarray

CTGF:

Connective tissue growth factor

CK:

Creatine kinase

DEXA:

Dual-energy X-ray absorptiometry

DMD:

Duchenne muscular dystrophy

DNA:

Deoxyribonucleic acid

ECHO:

Echocardiogram

ECG:

Electrocardiogram

FDA:

Food and Drug Administration

FVC:

Forced vital capacity

GCSF:

Granulocyte colony-stimulating factor

MLPA:

Multiplex ligation-dependent probe amplification

MRI:

Magnetic resonance imaging

NCT:

National clinical trial

NIPPV:

Non-invasive intermittent positive pressure ventilation

NF-κB:

Nuclear factor-kappa B

OSA:

Obstructive sleep apnea

%PPEF:

Percentage predicted peak expiratory flow

RNA:

Ribonucleic acid

SDB:

Sleep disordered breathing

TGF-β:

Transforming growth factor beta

References and Recommended Readings

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Authors and Affiliations

  1. Division of Neurology, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

    Megan Crone MD, FRCPC & Jean K. Mah MD, MSc, FRCPC

  2. Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, Alberta, T3B 6A8, Canada

    Megan Crone MD, FRCPC

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Correspondence to Megan Crone MD, FRCPC.

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Conflict of Interest

Megan Crone received a research grant from the Alberta Children’s Hospital Research Institute.

Jean K. Mah received research support for DMD clinical trials from PTC Therapeutics, Pfizer, Bristol-Myers Squibb, RevereGen BioPharma, and NS Pharma.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Neuromuscular Disorders

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Crone, M., Mah, J.K. Current and Emerging Therapies for Duchenne Muscular Dystrophy. Curr Treat Options Neurol 20, 31 (2018). https://doi.org/10.1007/s11940-018-0513-6

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