CRISPR Therapeutics for Duchenne Muscular Dystrophy

Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

(2022) Harry Wilton-Clark et al.   Genes

Restoration of dystrophin expression and correction of Duchenne muscular dystrophy by genome editing

(2021) Tejal Aslesh et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Casimersen: First Approval

(2021) Matt Shirley   DRUGS

Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression

(2021) Eleonora Maino et al.   EMBO Molecular Medicine

Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing

(2021) F. Chemello et al.   Science Advances

Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

(2021) Omar Sheikh et al.   BIODRUGS

Efficient precise in vivo base editing in adult dystrophic mice

(2021) Li Xu et al.   Nature Communications

Golodirsen: First Approval

(2020) Young-A Heo   DRUGS

Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components

(2020) Ignazio Maggio et al.   GENE THERAPY

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

(2020) A. Moretti et al.   NATURE MEDICINE

Correction of muscular dystrophies by CRISPR gene editing

(2020) Francesco Chemello et al.   JOURNAL OF CLINICAL INVESTIGATION

Correction of three prominent mutations in mouse and human models of Duchenne muscular dystrophy by single-cut genome editing

(2020) Yi-Li Min et al.   MOLECULAR THERAPY

Viltolarsen: First Approval

(2020) Sohita Dhillon   DRUGS

Current trends in gene recovery mediated by the CRISPR-Cas system

(2020) Hyeon-Ki Jang et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

Systemic nanoparticle delivery of CRISPR-Cas9 ribonucleoproteins for effective tissue specific genome editing

(2020) Tuo Wei et al.   Nature Communications

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

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

Genome Editing-Mediated Utrophin Upregulation in Duchenne Muscular Dystrophy Stem Cells

(2020) Kasturi Sengupta et al.   Molecular Therapy-Nucleic Acids

Dystrophin Gene-Editing Stability Is Dependent on Dystrophin Levels in Skeletal but Not Cardiac Muscles

(2020) Niclas E. Bengtsson et al.   MOLECULAR THERAPY

CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells

(2019) Yi-Li Min et al.   Science Advances

Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy

(2019) Christopher E. Nelson et al.   NATURE MEDICINE

Multifunctional CRISPR-Cas9 with engineered immunosilenced human T cell epitopes

(2019) Shayesteh R. Ferdosi et al.   Nature Communications

AAV9 Edits Muscle Stem Cells in Normal and Dystrophic Adult Mice

(2019) Michael E. Nance et al.   MOLECULAR THERAPY

CRISPR-Edited Stem Cells in a Patient with HIV and Acute Lymphocytic Leukemia

(2019) Lei Xu et al.   NEW ENGLAND JOURNAL OF MEDICINE

CRISPR/Cas9-based Dystrophin Restoration Reveals a Novel Role for Dystrophin in Bioenergetics and Stress Resistance of Muscle Progenitors

(2019) Polina R. Matre et al.   STEM CELLS

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

High levels of AAV vector integration into CRISPR-induced DNA breaks

(2019) Killian S. Hanlon et al.   Nature Communications

SaCas9 Requires 5′-NNGRRT-3′ PAM for Sufficient Cleavage and Possesses Higher Cleavage Activity than SpCas9 or FnCpf1 in Human Cells

(2018) Haihua Xie et al.   Biotechnology Journal

CRISPR RNAs trigger innate immune responses in human cells

(2018) Sojung Kim et al.   GENOME RESEARCH

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

(2018) Craig M McDonald et al.   LANCET

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

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

Functional Rescue of Dystrophin Deficiency in Mice Caused by Frameshift Mutations Using Campylobacter jejuni Cas9

(2018) Taeyoung Koo et al.   MOLECULAR THERAPY

Adenine base editing in mouse embryos and an adult mouse model of Duchenne muscular dystrophy

(2018) Seuk-Min Ryu et al.   NATURE BIOTECHNOLOGY

A highly specific SpCas9 variant is identified by in vivo screening in yeast

(2018) Antonio Casini et al.   NATURE BIOTECHNOLOGY

Myoediting: Toward Prevention of Muscular Dystrophy by Therapeutic Genome Editing

(2018) Yu Zhang et al.   PHYSIOLOGICAL REVIEWS

In vitro–transcribed guide RNAs trigger an innate immune response via the RIG-I pathway

(2018) Beeke Wienert et al.   PLOS BIOLOGY

SaCas9 Requires 5′-NNGRRT-3′ PAM for Sufficient Cleavage and Possesses Higher Cleavage Activity than SpCas9 or FnCpf1 in Human Cells

(2018) Haihua Xie et al.   Biotechnology Journal

Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing

(2018) Chengzu Long et al.   Science Advances

CRISPR-Induced Deletion with SaCas9 Restores Dystrophin Expression in Dystrophic Models In Vitro and In Vivo

(2018) Benjamin L. Duchêne et al.   MOLECULAR THERAPY

Evolved Cas9 variants with broad PAM compatibility and high DNA specificity

(2018) Johnny H. Hu et al.   NATURE

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

(2018) Christopher A. Vakulskas et al.   NATURE MEDICINE

Personalized gene and cell therapy for Duchenne Muscular Dystrophy

(2018) Florian Barthélémy et al.   NEUROMUSCULAR DISORDERS

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

(2018) Leonela Amoasii et al.   SCIENCE

Engineered CRISPR-Cas9 nuclease with expanded targeting space

(2018) Hiroshi Nishimasu et al.   SCIENCE

Directed evolution of CRISPR-Cas9 to increase its specificity

(2018) Jungjoon K. Lee et al.   Nature Communications

Cas9 immunity creates challenges for CRISPR gene editing therapies

(2018) Julie M. Crudele et al.   Nature Communications

CRISPR Correction of Duchenne Muscular Dystrophy

(2018) Yi-Li Min et al.   Annual Review of Medicine

Genetic Modulation of RNA Splicing with a CRISPR-Guided Cytidine Deaminase

(2018) Juanjuan Yuan et al.   MOLECULAR CELL

Enhanced proofreading governs CRISPR–Cas9 targeting accuracy

(2017) Janice S. Chen et al.   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy

(2017) Leonela Amoasii et al.   Science Translational Medicine

In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni

(2017) Eunji Kim et al.   Nature Communications

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

(2017) Caroline Le Guiner et al.   Nature Communications

Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

(2017) Niclas E. Bengtsson 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

CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice

(2017) Yu Zhang et al.   Science Advances

Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA in vivo induces homology-directed DNA repair

(2017) Kunwoo Lee et al.   Nature Biomedical Engineering

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

(2016) Daria Wojtal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells

(2016) Courtney S. Young et al.   Cell Stem Cell

Eteplirsen: First Global Approval

(2016) Yahiya Y. Syed   DRUGS

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

Applications of CRISPR technologies in research and beyond

(2016) Rodolphe Barrangou et al.   NATURE BIOTECHNOLOGY

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

(2016) Robert C. Griggs et al.   NEUROLOGY

Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations

(2016) Ignazio Maggio et al.   NUCLEIC ACIDS RESEARCH

Exon skipping therapy for Duchenne muscular dystrophy

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

The Pathogenesis and Therapy of Muscular Dystrophies

(2015) Simon Guiraud et al.   Annual Review of Genomics and Human Genetics

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

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

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo

(2015) Miguel A Moreno-Mateos et al.   NATURE METHODS

Beyond editing: repurposing CRISPR–Cas9 for precision genome regulation and interrogation

(2015) Antonia A. Dominguez et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rationally engineered Cas9 nucleases with improved specificity

(2015) I. M. Slaymaker et al.   SCIENCE

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

(2015) M. Tabebordbar et al.   SCIENCE

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

Quantifying on- and off-target genome editing

(2015) Ayal Hendel et al.   TRENDS IN BIOTECHNOLOGY

Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy

(2015) David G. Ousterout et al.   Nature Communications

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9

(2015) Hongmei Lisa Li et al.   Stem Cell Reports

Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases

(2014) S. Bae et al.   BIOINFORMATICS

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Genome-wide identification of CRISPR/Cas9 off-targets in human genome

(2014) Jinzhi Duan et al.   CELL RESEARCH

Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9

(2014) Rajat M. Gupta et al.   JOURNAL OF CLINICAL INVESTIGATION

DNA interrogation by the CRISPR RNA-guided endonuclease Cas9

(2014) Samuel H. Sternberg et al.   NATURE

Cationic lipid-mediated delivery of proteins enables efficient protein-based genome editing in vitro and in vivo

(2014) John A Zuris et al.   NATURE BIOTECHNOLOGY

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

(2014) C. Long et al.   SCIENCE

Adeno-associated viral vectors do not efficiently target muscle satellite cells

(2014) Andrea LH Arnett et al.   Molecular Therapy-Methods & Clinical Development

Repurposing CRISPR as an RNA-Guided Platform for Sequence-Specific Control of Gene Expression

(2013) Lei S. Qi et al.   CELL

Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity

(2013) F. Ann Ran et al.   CELL

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

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

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

(2013) Nikolai Klymiuk et al.   HUMAN MOLECULAR GENETICS

Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease

(2013) Seung Woo Cho et al.   NATURE BIOTECHNOLOGY

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

In silico abstraction of zinc finger nuclease cleavage profiles reveals an expanded landscape of off-target sites

(2013) Jeffry D. Sander et al.   NUCLEIC ACIDS RESEARCH

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Long-term Engraftment of Multipotent Mesenchymal Stromal Cells That Differentiate to Form Myogenic Cells in Dogs With Duchenne Muscular Dystrophy

(2011) Yuko Nitahara-Kasahara et al.   MOLECULAR THERAPY

Revealing off-target cleavage specificities of zinc-finger nucleases by in vitro selection

(2011) Vikram Pattanayak et al.   NATURE METHODS

Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors

(2010) Sylvie Boutin et al.   HUMAN GENE THERAPY

Genome editing with engineered zinc finger nucleases

(2010) Fyodor D. Urnov et al.   NATURE REVIEWS GENETICS

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY