Gene therapy for leukodystrophy: progress, challenges and opportunities

Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model

(2015) Fuzheng Guo et al.   ANNALS OF NEUROLOGY

Surface engineering of lentiviral vectors for gene transfer into gene therapy target cells

(2015) Camille Lévy et al.   CURRENT OPINION IN PHARMACOLOGY

Development of operational immunologic tolerance with neonatal gene transfer in nonhuman primates: preliminary studies

(2015) D S Tai et al.   GENE THERAPY

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

(2015) A. Ricca et al.   HUMAN MOLECULAR GENETICS

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy

(2015) J. A. Hawkins-Salsbury et al.   JOURNAL OF NEUROSCIENCE

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps

(2015) Ettore Salsano   MOLECULAR GENETICS AND METABOLISM

Case definition and classification of leukodystrophies and leukoencephalopathies

(2015) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

(2015) Mohammad A Rafi et al.   MOLECULAR THERAPY

Adenoassociated Virus Serotype 9-Mediated Gene Therapy for X-Linked Adrenoleukodystrophy

(2015) Yi Gong et al.   MOLECULAR THERAPY

Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates

(2015) Christian Hinderer et al.   MOLECULAR THERAPY

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Specific gene expression in mouse cortical astrocytes is mediated by a 1740bp-GFAP promoter-driven combined adeno-associated virus2/5/7/8/9

(2015) Xiandong Meng et al.   NEUROSCIENCE LETTERS

MLC1 protein: a likely link between leukodystrophies and brain channelopathies

(2015) Maria S. Brignone et al.   Frontiers in Cellular Neuroscience

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

(2015) Isabelle Thiffault et al.   Nature Communications

Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector

(2015) Kohei Hironaka et al.   Scientific Reports

Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates

(2015) Michel Zerah et al.   Human Gene Therapy Clinical Development

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

(2014) Eline M. Hamilton et al.   BRAIN

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

(2014) L. van Berge et al.   BRAIN

AAVrh.10 immunogenicity in mice and humans. Relevance of antibody cross-reactivity in human gene therapy

(2014) R Thwaite et al.   GENE THERAPY

Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector

(2014) N Miyake et al.   GENE THERAPY

Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy

(2014) A. Lattanzi et al.   HUMAN MOLECULAR GENETICS

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans

(2014) Sònia Sirisi et al.   HUMAN MOLECULAR GENETICS

Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy

(2014) Tanit Arnedo et al.   HUMAN MUTATION

Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial

(2014) Stéphane Palfi et al.   LANCET

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Comparative Efficacy and Safety of Multiple Routes of Direct CNS Administration of Adeno-Associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human Arylsulfatase A cDNA to Nonhuman Primates

(2014) Jonathan B. Rosenberg et al.   Human Gene Therapy Clinical Development

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strong Cortical and Spinal Cord Transduction After AAV7 and AAV9 Delivery into the Cerebrospinal Fluid of Nonhuman Primates

(2013) Lluis Samaranch et al.   HUMAN GENE THERAPY

scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease

(2013) Thomas Bucher et al.   HUMAN GENE THERAPY

Intracerebroventricular Injection of Adeno-Associated Virus 6 and 9 Vectors for Cell Type–Specific Transgene Expression in the Spinal Cord

(2013) Elisabeth Dirren et al.   HUMAN GENE THERAPY

A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice

(2013) Seemin Seher Ahmed et al.   MOLECULAR THERAPY

AAV9-mediated Expression of a Non-self Protein in Nonhuman Primate Central Nervous System Triggers Widespread Neuroinflammation Driven by Antigen-presenting Cell Transduction

(2013) Lluis Samaranch et al.   MOLECULAR THERAPY

Glial Promoter Selectivity following AAV-Delivery to the Immature Brain

(2013) Georg von Jonquieres et al.   PLoS One

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice

(2012) Françoise Piguet et al.   HUMAN GENE THERAPY

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

(2012) Marjo S van der Knaap et al.   LANCET NEUROLOGY

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation

(2012) A. Capotondo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-Term Follow-Up After Gene Therapy for Canavan Disease

(2012) P. Leone et al.   Science Translational Medicine

Long-Term Expression and Safety of Administration of AAVrh.10hCLN2 to the Brain of Rats and Nonhuman Primates for the Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis

(2012) Dolan Sondhi et al.   Human Gene Therapy Methods

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adeno-Associated Virus Serotype 9 Transduction in the Central Nervous System of Nonhuman Primates

(2011) Lluis Samaranch et al.   HUMAN GENE THERAPY

Bone Marrow Transplantation Augments the Effect of Brain- and Spinal Cord-Directed Adeno-Associated Virus 2/5 Gene Therapy by Altering Inflammation in the Murine Model of Globoid-Cell Leukodystrophy

(2011) A. S. Reddy et al.   JOURNAL OF NEUROSCIENCE

Leukoencephalopathy With Vanishing White Matter: A Review

(2010) Marianna Bugiani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The myeloid cells of the central nervous system parenchyma

(2010) Richard M. Ransohoff et al.   NATURE

Identification of Hematopoietic Stem Cell-Specific miRNAs Enables Gene Therapy of Globoid Cell Leukodystrophy

(2010) B. Gentner et al.   Science Translational Medicine

Microglial Physiology: Unique Stimuli, Specialized Responses

(2009) Richard M. Ransohoff et al.   Annual Review of Immunology

Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate

(2009) M.-A. Colle et al.   HUMAN MOLECULAR GENETICS

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

(2009) F. Galbiati et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

(2009) Sandra Duque et al.   MOLECULAR THERAPY

Efficient Gene Delivery and Selective Transduction of Glial Cells in the Mammalian Brain by AAV Serotypes Isolated From Nonhuman Primates

(2009) Patricia A Lawlor et al.   MOLECULAR THERAPY

Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy

(2009) Yong Hong Chen et al.   NATURE MEDICINE

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY