Translational development of splice-modifying antisense oligomers

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

(2016) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Contributions of Japanese patients to development of antisense therapy for DMD

(2016) Masafumi Matsuo et al.   BRAIN & DEVELOPMENT

Pharmacokinetics, pharmacodynamics, and efficacy of a small-moleculeSMN2splicing modifier in mouse models of spinal muscular atrophy

(2016) Xin Zhao et al.   HUMAN MOLECULAR GENETICS

Antisense molecules: A new class of drugs

(2016) Daniel P. Potaczek et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

(2016) Volker Straub et al.   LANCET NEUROLOGY

The case for eteplirsen: Paving the way for precision medicine

(2016) M. Carrie Miceli et al.   MOLECULAR GENETICS AND METABOLISM

DMDgenotypes and loss of ambulation in the CINRG Duchenne Natural History Study

(2016) Luca Bello et al.   NEUROLOGY

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

(2016) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

(2016) Eugenio Mercuri et al.   PLoS One

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hexose enhances oligonucleotide delivery and exon skipping in dystrophin-deficient mdx mice

(2016) Gang Han et al.   Nature Communications

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

(2016) Luca Bello et al.   Scientific Reports

Fructose Promotes Uptake and Activity of Oligonucleotides With Different Chemistries in a Context-dependent Manner in mdx Mice

(2016) Limin Cao et al.   Molecular Therapy-Nucleic Acids

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

(2015) Yeon Lee et al.   Annual Review of Biochemistry

Improving clinical trial design for Duchenne muscular dystrophy

(2015) Luciano Merlini et al.   BMC Neurology

Antisense oligonucleotide drugs for Duchenne muscular dystrophy: how far have we come and what does the future hold?

(2015) Ashley Guncay et al.   Future Medicinal Chemistry

Oligonucleotide therapeutics: chemistry, delivery and clinical progress

(2015) Vivek K Sharma et al.   Future Medicinal Chemistry

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

(2015) Valeria Ricotti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

(2015) James Palacino et al.   Nature Chemical Biology

Exon 53 skipping of the dystrophin gene in patients with Duchenne muscular dystrophy by systemic administration of NS-065/NCNP-01: A phase 1, dose escalation, first-in-human study

(2015) H. Komaki et al.   NEUROMUSCULAR DISORDERS

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

(2015) Stephen Lynn et al.   NEUROMUSCULAR DISORDERS

2′-Fluoro-modified phosphorothioate oligonucleotide can cause rapid degradation of P54nrb and PSF

(2015) Wen Shen et al.   NUCLEIC ACIDS RESEARCH

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

(2015) Vicki L. McGovern et al.   PLoS One

The emperor's new dystrophin: finding sense in the noise

(2015) S.D. Wilton et al.   TRENDS IN MOLECULAR MEDICINE

Antisense oligonucleotide development for the treatment of muscular dystrophies

(2015) Tri Le Bao et al.   Expert Opinion on Orphan Drugs

Evaluation of 2’-Deoxy-2’-fluoro Antisense Oligonucleotides for Exon Skipping in Duchenne Muscular Dystrophy

(2015) Silvana M G Jirka et al.   Molecular Therapy-Nucleic Acids

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

(2015) Kane Greer et al.   Molecular Genetics & Genomic Medicine

New developments in exon skipping and splice modulation therapies for neuromuscular diseases

(2014) Aleksander Touznik et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models

(2014) Erkan Y. Osman et al.   HUMAN MOLECULAR GENETICS

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

(2014) Thomas Voit et al.   LANCET NEUROLOGY

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

(2014) Nicolas Wein et al.   NATURE MEDICINE

Biomarkers and surrogate endpoints in Duchenne: Meeting report

(2014) Annemieke Aartsma-Rus et al.   NEUROMUSCULAR DISORDERS

Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?

(2014) Steve D. Wilton et al.   NEUROMUSCULAR DISORDERS

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

(2014) Marika Pane et al.   PLoS One

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Exon-Skipping Therapy: A Roadblock, Detour, or Bump in the Road?

(2014) E. P. Hoffman et al.   Science Translational Medicine

Exon identity crisis: disease-causing mutations that disrupt the splicing code

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

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

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

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Spinal muscular atrophy: An update on therapeutic progress

(2013) Joonbae Seo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Strategies for Postmarketing Surveillance of Drugs for Rare Diseases

(2013) A S Kesselheim et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy

(2013) Anna G Mayhew et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Pluronic–PEI copolymers enhance exon-skipping of 2′-O-methyl phosphorothioate oligonucleotide in cell culture and dystrophic mdx mice

(2013) M Wang et al.   GENE THERAPY

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy

(2013) J. C. van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

(2013) Natalia N. Singh et al.   NUCLEIC ACIDS RESEARCH

Species-specific Inflammatory Responses as a Primary Component for the Development of Glomerular Lesions in Mice and Monkeys Following Chronic Administration of a Second-generation Antisense Oligonucleotide

(2013) Kendall S. Frazier et al.   TOXICOLOGIC PATHOLOGY

Context Dependent Effects of Chimeric Peptide Morpholino Conjugates Contribute to Dystrophin Exon-skipping Efficiency

(2013) HaiFang Yin et al.   Molecular Therapy-Nucleic Acids

LTBP4genotype predicts age of ambulatory loss in duchenne muscular dystrophy

(2012) Kevin M. Flanigan et al.   ANNALS OF NEUROLOGY

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

(2012) Thomas O. Crawford et al.   PLoS One

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Innovative study design for paediatric clinical trials

(2011) Paola Baiardi et al.   EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

A framework for applying unfamiliar trial designs in studies of rare diseases

(2011) Samir Gupta et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

RNA-targeted splice-correction therapy for neuromuscular disease

(2010) M. J. A. Wood et al.   BRAIN

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

(2010) Kevin M. Flanigan et al.   HUMAN MUTATION

Dystrophin Isoform Induction In Vivo by Antisense-mediated Alternative Splicing

(2010) Sue Fletcher et al.   MOLECULAR THERAPY

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of a novel muscle targeting peptide in mdx mice

(2010) Yiqi Seow et al.   PEPTIDES

Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy

(2010) Annemieke Aartsma-Rus   RNA Biology

Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs

(2009) Toshifumi Yokota et al.   ANNALS OF NEUROLOGY

Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy

(2009) Hans Heemskerk et al.   Annals of the New York Academy of Sciences

Cellular Uptake of Neutral Phosphorodiamidate Morpholino Oligomers

(2009) Patrick Iversen et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino

(2009) B Wu et al.   GENE THERAPY

In vivocomparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

(2009) Hans A. Heemskerk et al.   JOURNAL OF GENE MEDICINE

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Rational Design of Antisense Oligomers to Induce Dystrophin Exon Skipping

(2009) Chalermchai Mitrpant et al.   MOLECULAR THERAPY

Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse

(2009) Paola Rimessi et al.   MOLECULAR THERAPY

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

Improved cell-penetrating peptide–PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle

(2008) Gabriela D. Ivanova et al.   NUCLEIC ACIDS RESEARCH

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE

DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy

(2007) Olga L. Gurvich et al.   ANNALS OF NEUROLOGY