Gene therapy for lysosomal storage disorders: a good start

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

(2016) Manisha Balwani et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system

(2015) Maurizio Scarpa et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines

(2015) Mieke Aldenhoven et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

In vivo genome editing of the albumin locus as a platform for protein replacement therapy

(2015) R. Sharma et al.   BLOOD

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

(2015) M. Aldenhoven et al.   BLOOD

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

(2015) Taichi Wakabayashi et al.   HUMAN GENE THERAPY

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan

(2015) Cara M. Weismann et al.   HUMAN MOLECULAR GENETICS

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

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

(2015) Mohammad A. Rafi et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

(2015) Jan Lukas 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

Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy

(2015) Jonas Doerr et al.   MOLECULAR THERAPY

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

(2015) Martin L. Katz et al.   Science Translational Medicine

Ex Vivo Gene Therapy Using Patient iPSC-Derived NSCs Reverses Pathology in the Brain of a Homologous Mouse Model

(2015) Tagan A. Griffin et al.   Stem Cell 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

Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease

(2014) Troy C. Lund et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy

(2014) M Solders et al.   BONE MARROW TRANSPLANTATION

Similar Therapeutic Efficacy Between a Single Administration of Gene Therapy and Multiple Administrations of Recombinant Enzyme in a Mouse Model of Lysosomal Storage Disease

(2014) Rita Ferla et al.   HUMAN GENE THERAPY

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu 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

Comparison of Five Peptide Vectors for Improved Brain Delivery of the Lysosomal Enzyme Arylsulfatase A

(2014) A. Bockenhoff et al.   JOURNAL OF NEUROSCIENCE

Insulin Receptor Antibody–Sulfamidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type A Cells

(2014) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

The Pharmacological Chaperone AT2220 Increases the Specific Activity and Lysosomal Delivery of Mutant Acid Alpha-Glucosidase, and Promotes Glycogen Reduction in a Transgenic Mouse Model of Pompe Disease

(2014) Richie Khanna et al.   PLoS One

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

(2014) S.-h. Kan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

(2013) J. J. Boelens et al.   BLOOD

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

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

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis

(2013) Nathan R. Selden et al.   Journal of Neurosurgery-Pediatrics

Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease

(2013) Ana Sergijenko et al.   MOLECULAR THERAPY

Multipotent Stromal Cells Alleviate Inflammation, Neuropathology, and Symptoms Associated with Globoid Cell Leukodystrophy in the Twitcher Mouse

(2013) Brittni A. Scruggs et al.   STEM CELLS

The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease

(2012) Emanuela Lacaná et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Correction of Pathological Accumulation of Glycosaminoglycans in Central Nervous System and Peripheral Tissues of MPSIIIA Mice Through Systemic AAV9 Gene Transfer

(2012) Albert Ruzo et al.   HUMAN GENE THERAPY

Gene Therapy for Mucopolysaccharidosis Type VI Is Effective in Cats Without Pre-Existing Immunity to AAV8

(2012) Rita Ferla et al.   HUMAN GENE THERAPY

Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique

(2012) Patricia K. Duffner et al.   JOURNAL OF PEDIATRICS

Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy

(2012) Elizabeth Y. Qin et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice

(2012) Alexander Langford-Smith et al.   MOLECULAR THERAPY

Hematopoietic Stem Cell Gene Therapy for the Multisystemic Lysosomal Storage Disorder Cystinosis

(2012) Frank Harrison 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

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

(2011) M Mynarek et al.   BONE MARROW TRANSPLANTATION

CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model

(2011) Dar-Shong Lin et al.   MOLECULAR GENETICS AND METABOLISM

Leukodystrophy and Gene Therapy with a Dimmer Switch

(2011) Paul J. Orchard et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Margherita Neri et al.   STEM CELLS

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

(2010) N. P. van Til et al.   BLOOD

The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche

(2010) I. Visigalli et al.   BLOOD

Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model

(2010) I. Visigalli et al.   BLOOD

Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models

(2010) Annalisa Lattanzi et al.   HUMAN MOLECULAR GENETICS

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI

(2010) Sean Turbeville et al.   MOLECULAR GENETICS AND METABOLISM

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

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

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

Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease

(2009) Mylvaganam Jeyakumar et al.   STEM CELLS

Multipotential Neural Precursors Transplanted into the Metachromatic Leukodystrophy Brain Fail to Generate Oligodendrocytes but Contribute to Limit Brain Dysfunction

(2008) M.I. Givogri et al.   DEVELOPMENTAL NEUROSCIENCE

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY

Central nervous system therapy for lysosomal storage disorders

(2008) Gregory M. Enns et al.   Neurosurgical Focus