Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I

Mucopolysaccharidosis VI pathophysiology diagnosis and treatment

(2017) Paul Harmatz   Frontiers in Bioscience-Landmark

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

(2016) D. F. van Rappard et al.   BLOOD

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency

(2016) Maria Pia Cicalese et al.   BLOOD

Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe‐affected non‐human primates by intracerebral lentiviral gene therapy

(2016) Vasco Meneghini et al.   EMBO Molecular Medicine

Preclinical Testing of the Safety and Tolerability of Lentiviral Vector–Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies

(2016) Ilaria Visigalli et al.   HUMAN GENE THERAPY

The Role of Conditioning in Hematopoietic Stem-Cell Gene Therapy

(2016) Maria Ester Bernardo et al.   HUMAN GENE THERAPY

Cellular players of hematopoietic stem cell mobilization in the bone marrow niche

(2016) Joshua Tay et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Gene therapy for metachromatic leukodystrophy

(2016) Jonathan B. Rosenberg et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I

(2016) Sarah Laraway et al.   JOURNAL OF PEDIATRICS

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

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

(2016) Susan Elliott et al.   MOLECULAR GENETICS AND METABOLISM

Lentiviral vectors, two decades later

(2016) L. Naldini et al.   SCIENCE

Gene therapy for leukodystrophy: progress, challenges and opportunities

(2016) Patrick Aubourg   Expert Opinion on Orphan Drugs

Clinical development of gene therapy: results and lessons from recent successes

(2016) Sandeep RP Kumar et al.   Molecular Therapy-Methods & Clinical Development

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

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

(2015) Z. Spacil et al.   CLINICAL CHEMISTRY

Gene therapy for primary immunodeficiencies

(2015) A. Fischer et al.   CLINICAL GENETICS

Clinical Applications of Gene Therapy for Primary Immunodeficiencies

(2015) Maria Pia Cicalese et al.   HUMAN GENE THERAPY

Expanded newborn screening by mass spectrometry: New tests, future perspectives

(2015) Daniela Ombrone et al.   MASS SPECTROMETRY REVIEWS

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

(2015) Alexander A. Boucher et al.   Orphanet Journal of Rare Diseases

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations

(2015) Shunji Tomatsu et al.   Expert Opinion on Orphan Drugs

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

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

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

(2014) Christian Hinderer et al.   MOLECULAR THERAPY

Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I

(2014) C. Hinderer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy for Fabry Disease: A Review of the Literature

(2013) Aritz Perez Ruiz de Garibay et al.   BIODRUGS

Neurodevelopmental Outcomes of Umbilical Cord Blood Transplantation in Metachromatic Leukodystrophy

(2013) Holly R. Martin et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study

(2012) Derlis E. Gonzalez et al.   AMERICAN JOURNAL OF HEMATOLOGY

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

(2012) Françoise Piguet et al.   HUMAN GENE THERAPY

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

The natural course of gross motor deterioration in metachromatic leukodystrophy

(2011) CHRISTIANE KEHRER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Lentiviral Vectors in Gene Therapy: Their Current Status and Future Potential

(2010) David Escors et al.   ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS

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

(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

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New Therapeutic Approaches to Mendelian Disorders

(2010) Harry C. Dietz   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

(2009) A Biffi et al.   CLINICAL GENETICS

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

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

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

(2009) Ulrich Matzner et al.   MOLECULAR THERAPY

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

Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease

(2008) Ulrich Matzner et al.   JOURNAL OF MOLECULAR MEDICINE-JMM