Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies

Golodirsen: First Approval

(2020) Young-A Heo   DRUGS

Clinical development on the frontier: gene therapy for duchenne muscular dystrophy

(2020) Damon R. Asher et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

(2020) Eugenio Mercuri et al.   Journal of Comparative Effectiveness Research

Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy

(2020) Kasia Dzierlega et al.   GENE THERAPY

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

(2020) Jerry R. Mendell et al.   JAMA Neurology

Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study

(2020) Edward C. Smith et al.   PLOS MEDICINE

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy

(2019) Panteleimon D. Mavroudis et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Empirical and Computational Comparison of Alternative Therapeutic Exon Skip Repairs for Duchenne Muscular Dystrophy

(2019) Krystal Manyuan Ma et al.   BIOCHEMISTRY

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

(2019) Leslie Cowen et al.   BMC Neurology

Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy

(2019) Lindsay N. Alfano et al.   MEDICINE

Exons 45-55 skipping using mutation-tailored cocktails of antisense morpholinos in the DMD gene

(2019) Yusuke Echigoya et al.   MOLECULAR THERAPY

Vamorolone, a dissociative steroidal compound, reduces collagen antibody-induced joint damage and inflammation when administered after disease onset

(2019) Jesse M. Damsker et al.   INFLAMMATION RESEARCH

Cardiac Pathophysiology and the Future of Cardiac Therapies in Duchenne Muscular Dystrophy

(2019) Tatyana A. Meyers et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

(2019) Eric P. Hoffman et al.   NEUROLOGY

Orthogonal analysis of dystrophin protein and mRNA as a surrogate outcome for drug development

(2019) Kitipong Uaesoontrachoon et al.   Biomarkers in Medicine

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial

(2019) Sara Nagy et al.   Trials

Identifying and Avoiding tcDNA-ASO Sequence-Specific Toxicity for the Development of DMD Exon 51 Skipping Therapy

(2019) Philippine Aupy et al.   Molecular Therapy-Nucleic Acids

Exon-skipping advances for Duchenne muscular dystrophy

(2018) Lucía Echevarría et al.   HUMAN MOLECULAR GENETICS

Eteplirsen for paediatric patients with Duchenne muscular dystrophy: A pooled-analysis

(2018) Liane Randeree et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy

(2018) Dongsheng Duan   MOLECULAR THERAPY

Deflazacort vs prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post hoc analysis from the ACT DMD trial

(2018) Perry B Shieh et al.   MUSCLE & NERVE

Eteplirsen treatment for Duchenne muscular dystrophy

(2018) Jay S. Charleston et al.   NEUROLOGY

Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in patients with genetic mutations amenable to exon 53 skipping

(2018) F. Muntoni et al.   NEUROMUSCULAR DISORDERS

Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy

(2018) Alison M. Blain et al.   PLoS One

Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes

(2018) Eric P. Hoffman et al.   STEROIDS

A mini review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy

(2018) Erik Landfeldt et al.   ACTA PAEDIATRICA

DMD CLINICAL THERAPIES II

(2018) H. Komaki et al.   NEUROMUSCULAR DISORDERS

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

(2018) Laurie S. Conklin et al.   PHARMACOLOGICAL RESEARCH

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

(2018) Leonela Amoasii et al.   SCIENCE

NS-065/NCNP-01: an Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

(2018) Naoki Watanabe et al.   Molecular Therapy-Nucleic Acids

A new era in the management of Duchenne muscular dystrophy

(2018) Rudolf Korinthenberg   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Injection site reactions after long-term subcutaneous delivery of drisapersen: a retrospective study

(2018) Niels Hilhorst et al.   EUROPEAN JOURNAL OF PEDIATRICS

Efficacy of Multi-exon Skipping Treatment in Duchenne Muscular Dystrophy Dog Model Neonates

(2018) Kenji Rowel Q. Lim et al.   MOLECULAR THERAPY

A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe

(2018) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Effects of functional level on balance in children with Duchenne Muscular Dystrophy

(2017) Halil Alkan et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(2017) Craig M McDonald et al.   LANCET

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

(2017) David L. Mack et al.   MOLECULAR THERAPY

Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy

(2017) Yusuke Echigoya et al.   MOLECULAR THERAPY

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

(2017) Matthew Elverman et al.   MUSCLE & NERVE

Effects of systemic multiexon skipping with peptide-conjugated morpholinos in the heart of a dog model of Duchenne muscular dystrophy

(2017) Yusuke Echigoya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy

(2017) Caroline Le Guiner et al.   Nature Communications

Eteplirsen in the treatment of Duchenne muscular dystrophy

(2017) Kenji Rowel Lim et al.   Drug Design Development and Therapy

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Translational development of splice-modifying antisense oligomers

(2016) S Fletcher et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Approving a Problematic Muscular Dystrophy Drug

(2016) Aaron S. Kesselheim et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Deletion of exons 3−9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy

(2016) Akinori Nakamura et al.   JOURNAL OF HUMAN GENETICS

Eteplirsen Approved for Duchenne Muscular Dystrophy: The FDA Faces a Difficult Choice

(2016) Cy A Stein   MOLECULAR THERAPY

Railroading at the FDA

(2016)   NATURE MEDICINE

Impact of corticotherapy, nutrition, and sleep disorder on quality of life of patients with Duchenne muscular dystrophy

(2016) Giovanna Jeronimo et al.   NUTRITION

Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy

(2016) David G. Allen et al.   PHYSIOLOGICAL REVIEWS

Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy

(2016) Juliette Ropars et al.   PLoS One

Exon skipping therapy for Duchenne muscular dystrophy

(2015) Ryszard Kole et al.   ADVANCED DRUG DELIVERY REVIEWS

Contemporary Cardiac Issues in Duchenne Muscular Dystrophy: Table.

(2015) Elizabeth M. McNally et al.   CIRCULATION

Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program

(2015) Alexander Morrison-Nozik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In Silico Screening Based on Predictive Algorithms as a Design Tool for Exon Skipping Oligonucleotides in Duchenne Muscular Dystrophy

(2015) Yusuke Echigoya et al.   PLoS One

Translational and Regulatory Challenges for Exon Skipping Therapies

(2014) Annemieke Aartsma-Rus et al.   HUMAN GENE THERAPY

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

Skipping Multiple Exons of Dystrophin Transcripts Using Cocktail Antisense Oligonucleotides

(2014) Yusuke Echigoya et al.   Nucleic Acid Therapeutics

What Can We Learn From Clinical Trials of Exon Skipping for DMD?

(2014) Qi-long Lu et al.   Molecular Therapy-Nucleic Acids

The Anticancer Drug Tamoxifen Counteracts the Pathology in a Mouse Model of Duchenne Muscular Dystrophy

(2013) Olivier M. Dorchies et al.   AMERICAN JOURNAL OF PATHOLOGY

Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

(2013) Stuart J Moat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Doubts raised over 'read-through' Duchenne drug mechanism

(2013) Cormac Sheridan   NATURE BIOTECHNOLOGY

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

(2013) Stuart P. McElroy et al.   PLOS BIOLOGY

Effects of Angiotensin-Converting Enzyme Inhibitors and/or Beta Blockers on the Cardiomyopathy in Duchenne Muscular Dystrophy

(2012) Laurence Viollet et al.   AMERICAN JOURNAL OF CARDIOLOGY

Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy

(2012) M. E. Garralda et al.   CHILD CARE HEALTH AND DEVELOPMENT

Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?

(2012) Toshifumi Yokota et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Novel Approaches to Corticosteroid Treatment in Duchenne Muscular Dystrophy

(2012) Eric P. Hoffman et al.   Physical Medicine and Rehabilitation Clinics of North America

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy Muscle

(2011) Eric P. Hoffman et al.   AMERICAN JOURNAL OF PATHOLOGY

Multiple exon skipping strategies to by-pass dystrophin mutations

(2011) Carl F. Adkin et al.   NEUROMUSCULAR DISORDERS

The Pathomechanics of Gait in Duchenne Muscular Dystrophy

(2010) David H. Sutherland et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

In-frame Dystrophin Following Exon 51-Skipping Improves Muscle Pathology and Function in the Exon 52–Deficient mdx Mouse

(2010) Yoshitsugu Aoki et al.   MOLECULAR THERAPY

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy

(2010) Vinod Malik et al.   Therapeutic Advances in Neurological Disorders

Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs

(2009) Toshifumi Yokota et al.   ANNALS OF NEUROLOGY

Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy

(2009) Rita Wen Kaspar et al.   Journal of the American Academy of Nurse Practitioners

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

(2009) D. S. Auld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mouse: cardiac protection and improved exercise performance

(2008) G. M. Buyse et al.   EUROPEAN HEART JOURNAL

Sustained Dystrophin Expression Induced by Peptide-conjugated Morpholino Oligomers in the Muscles of mdx Mice

(2008) Natee Jearawiriyapaisarn et al.   MOLECULAR THERAPY

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

(2008) Verónica Ferreiro et al.   MUSCLE & NERVE

Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer

(2008) B. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA