Efficacy and Safety of a Krabbe Disease Gene Therapy

Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease

(2021) Yedda Li et al.   MOLECULAR THERAPY

Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

(2021) Mohammad A Rafi et al.   BioImpacts

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal

(2021) Sara Marcó et al.   Molecular Therapy-Methods & Clinical Development

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

(2020) Nicole I. Wolf et al.   Annals of Clinical and Translational Neurology

Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy

(2020) James M. Wilson et al.   HUMAN GENE THERAPY

Krabbe disease successfully treated via monotherapy of intrathecal gene therapy

(2020) Allison M. Bradbury et al.   JOURNAL OF CLINICAL INVESTIGATION

Translational Feasibility of Lumbar Puncture for Intrathecal AAV Administration

(2020) Christian Hinderer et al.   Molecular Therapy-Methods & Clinical Development

Adeno-Associated Virus-Induced Dorsal Root Ganglion Pathology

(2020) Juliette Hordeaux et al.   HUMAN GENE THERAPY

A single injection of an optimized AAV vector into cerebrospinal fluid corrects neurological disease in a murine model of GM1 gangliosidosis

(2020) Christian Hinderer et al.   HUMAN GENE THERAPY

Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy

(2020) Debora Kaminski et al.   HUMAN MOLECULAR GENETICS

Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series

(2020) Deepa H. Chand et al.   JOURNAL OF PEDIATRICS

Safe and sustained expression of human iduronidase after adeno-associated virus 9 intrathecal administration in infant rhesus monkeys

(2019) Juliette Hordeaux et al.   HUMAN GENE THERAPY

Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease)

(2019) Carley R. Corado et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN

(2018) Christian Hinderer et al.   HUMAN GENE THERAPY

Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals

(2018) Christian Hinderer et al.   HUMAN GENE THERAPY

AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)

(2018) Allison M. Bradbury et al.   HUMAN GENE THERAPY

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

(2018) Jennifer M. Kwon et al.   Orphanet Journal of Rare Diseases

Assessment of Humoral, Innate, and T-Cell Immune Responses to Adeno-Associated Virus Vectors

(2018) Roberto Calcedo et al.   Human Gene Therapy Methods

Standardized method for intra-cisterna magna delivery under fluoroscopic guidance in nonhuman primates

(2018) Nathan Katz et al.   Human Gene Therapy Methods

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques

(2018) Juliette Hordeaux et al.   Molecular Therapy-Methods & Clinical Development

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Human Alpha-L-Iduronidase in Rhesus Macaques

(2018) Juliette Hordeaux et al.   Molecular Therapy-Methods & Clinical Development

Psychosine, a marker of Krabbe phenotype and treatment effect

(2017) M.L. Escolar et al.   MOLECULAR GENETICS AND METABOLISM

Developmental outcomes of cord blood transplantation for Krabbe disease

(2017) Matthew D. Wright et al.   NEUROLOGY

Psychosine enhances the shedding of membrane microvesicles: Implications in demyelination in Krabbe’s disease

(2017) Ludovic D’Auria et al.   PLoS One

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

(2016) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease)

(2016) Allison M. Bradbury et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant

(2016) Subha Karumuthil-Melethil et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A microglial hypothesis of globoid cell leukodystrophy pathology

(2016) Alexandra M. Nicaise et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Clinical management of Krabbe disease

(2016) Maria L. Escolar et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model

(2016) Christian Hinderer et al.   MOLECULAR GENETICS AND METABOLISM

Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII

(2016) Brittney L Gurda et al.   MOLECULAR THERAPY

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

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

(2015) Christian Hinderer et al.   MOLECULAR THERAPY

Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats

(2014) T Bucher et al.   GENE THERAPY

Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy

(2014) Marco A. Passini et al.   HUMAN GENE THERAPY

Biochemical, histological and functional correction of mucopolysaccharidosis Type IIIB by intra-cerebrospinal fluid gene therapy

(2014) Albert Ribera et al.   HUMAN MOLECULAR GENETICS

Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I

(2014) Christian Hinderer et al.   MOLECULAR THERAPY

Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death

(2014) V Voccoli et al.   Cell Death & Disease

Widespread gene transfer in the central nervous system of cynomolgus macaques following delivery of AAV9 into the cisterna magna

(2014) Christian Hinderer et al.   Molecular Therapy-Methods & Clinical Development

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

(2013) S J Gray et al.   GENE THERAPY

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease

(2013) Gregory B. Potter et al.   HUMAN MOLECULAR GENETICS

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

(2013) Virginia Haurigot et al.   JOURNAL OF CLINICAL INVESTIGATION

Modeling Transformations of Neurodevelopmental Sequences across Mammalian Species

(2013) A. D. Workman et al.   JOURNAL OF NEUROSCIENCE

Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype

(2013) Ahmed N. Abdelhalim et al.   PEDIATRIC NEUROLOGY

Absolute Determination of Single-Stranded and Self-Complementary Adeno-Associated Viral Vector Genome Titers by Droplet Digital PCR

(2013) Martin Lock et al.   Human Gene Therapy Methods

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

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Peripheral Neuropathy in the Twitcher Mouse Involves the Activation of Axonal Caspase 3

(2011) Benjamin Smith et al.   ASN Neuro

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

(2011) Lluis Samaranch et al.   HUMAN GENE THERAPY

Homeostatic regulation of the endoneurial microenvironment during development, aging and in response to trauma, disease and toxic insult

(2010) Andrew P. Mizisin et al.   ACTA NEUROPATHOLOGICA

Rapid, Simple, and Versatile Manufacturing of Recombinant Adeno-Associated Viral Vectors at Scale

(2010) Martin Lock et al.   HUMAN GENE THERAPY

The Hunter's Hope Krabbe Family Database

(2008) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Clinical and Immunopathologic Alterations in Rhesus Macaques Affected with Globoid Cell Leukodystrophy

(2007) Juan T. Borda et al.   AMERICAN JOURNAL OF PATHOLOGY