Clinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement

SnapShot: Lysosomal Storage Diseases

(2020) José A. Martina et al.   CELL

Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): Clinical outcomes from 33 patients

(2020) Francesca Fumagalli et al.   MOLECULAR GENETICS AND METABOLISM

Engineering adeno-associated virus vectors for gene therapy

(2020) Chengwen Li et al.   NATURE REVIEWS GENETICS

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

(2020) Camila Pará et al.   Journal of Clinical Medicine

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases

(2020) Barbara A. Perez et al.   Brain Sciences

Inherited disorders of lysosomal membrane transporters

(2020) Marjan Huizing et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Experimental gene therapies for the NCLs

(2020) Wenfei Liu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

(2020) Karim Bey et al.   Molecular Therapy-Methods & Clinical Development

Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases

(2020) Jacob M. Favret et al.   Frontiers in Molecular Biosciences

Role of induced pluripotent stem cells in lysosomal storage diseases

(2020) Jun Kido et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

(2020) Dolan Sondhi et al.   Science Translational Medicine

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

(2019) André R. A. Marques et al.   JOURNAL OF CELL SCIENCE

Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges

(2019) Marina Cavazzana et al.   NATURE REVIEWS DRUG DISCOVERY

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

(2019) Gustavo H.B. Maegawa   JOURNAL OF CHILD NEUROLOGY

An update on gene therapy for lysosomal storage disorders

(2019) Murtaza S. Nagree et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Lysosomal diseases: Overview on current diagnosis and treatment

(2019) Fabiano de Oliveira Poswar et al.   GENETICS AND MOLECULAR BIOLOGY

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

(2019) Julie B. Eisengart et al.   GENETICS IN MEDICINE

Treating Lysosomal Storage Disorders: What Have We Learnt?

(2019) Robin H Lachmann   JOURNAL OF INHERITED METABOLIC DISEASE

Modeling neuronopathic storage diseases with patient-derived culture systems

(2019) Friederike Zunke et al.   NEUROBIOLOGY OF DISEASE

Gene Therapy

(2019) Katherine A. High et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy Tools for Brain Diseases

(2019) Selene Ingusci et al.   Frontiers in Pharmacology

Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases

(2019) Brittney L Gurda et al.   HUMAN MOLECULAR GENETICS

Hematopoietic stem cell gene therapy: The optimal use of lentivirus and gene editing approaches

(2019) Andrés Lamsfus-Calle et al.   BLOOD REVIEWS

Microglia Biology: One Century of Evolving Concepts

(2019) Marco Prinz et al.   CELL

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Immune Response Mechanisms against AAV Vectors in Animal Models

(2019) Ashley T. Martino et al.   Molecular Therapy-Methods & Clinical Development

Modulation of immune responses in lentiviral vector-mediated gene transfer

(2018) Andrea Annoni et al.   CELLULAR IMMUNOLOGY

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

(2018) Christian Hinderer et al.   HUMAN GENE THERAPY

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

(2018) Maria Teresa Fiorenza et al.   HUMAN MOLECULAR GENETICS

Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trial

(2018) Caroline Sevin et al.   MOLECULAR GENETICS AND METABOLISM

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Gene therapy for neurological disorders: progress and prospects

(2018) Benjamin E. Deverman et al.   NATURE REVIEWS DRUG DISCOVERY

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation

(2018) Gerald V. Raymond et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Enzyme enhancement therapeutics for lysosomal storage diseases: Current status and perspective

(2018) Ryan Thomas et al.   MOLECULAR GENETICS AND METABOLISM

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

(2018) Frits A. Wijburg et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Adeno-Associated Virus Neutralizing Antibodies in Large Animals and Their Impact on Brain Intraparenchymal Gene Transfer

(2018) Dan Wang et al.   Molecular Therapy-Methods & Clinical Development

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

(2017) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Unraveling the Complex Story of Immune Responses to AAV Vectors Trial After Trial

(2017) Céline Vandamme et al.   HUMAN GENE THERAPY

Clinical Gene Therapy for Neurodegenerative Diseases: Past, Present, and Future

(2017) Françoise Piguet et al.   HUMAN GENE THERAPY

Overview of immune abnormalities in lysosomal storage disorders

(2017) Donato Rigante et al.   IMMUNOLOGY LETTERS

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

(2017) Rachele Penati et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial

(2017) Marc Tardieu et al.   LANCET NEUROLOGY

Intracerebral administration of rAAV2/5hNAGLU vector in children with MPS IIIB: results at 30 months of a phase I/II trial

(2017) Marc Tardieu et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications

(2017) Alessandra Biffi   MOLECULAR THERAPY

Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems

(2017) Ken Y Chan et al.   NATURE NEUROSCIENCE

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

Developmental outcomes of cord blood transplantation for Krabbe disease

(2017) Matthew D. Wright et al.   NEUROLOGY

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

(2017) Joseph Muenzer et al.   Orphanet Journal of Rare Diseases

Open issues in Mucopolysaccharidosis type I-Hurler

(2017) Rossella Parini et al.   Orphanet Journal of Rare Diseases

Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders

(2017) Nicoletta Plotegher et al.   TRENDS IN MOLECULAR MEDICINE

Overview of Inflammation in Neurometabolic Diseases

(2017) Gregory A. Grabowski   Seminars in Pediatric Neurology

Disease models for the development of therapies for lysosomal storage diseases

(2016) Miao Xu et al.   Annals of the New York Academy of Sciences

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

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

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

(2016) Samuel Groeschel et al.   JAMA Neurology

Targeted approaches to induce immune tolerance for Pompe disease therapy

(2016) Phillip A Doerfler et al.   Molecular Therapy-Methods & Clinical Development

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

(2015) Diane F. van Rappard et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

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

Neuroinflammatory paradigms in lysosomal storage diseases

(2015) Megan E. Bosch et al.   Frontiers in Neuroscience

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

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

Animal models for lysosomal storage disorders

(2013) G. M. Pastores et al.   BIOCHEMISTRY-MOSCOW

Immune responses to AAV vectors: overcoming barriers to successful gene therapy

(2013) F. Mingozzi et al.   BLOOD

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Natural history of Sanfilippo syndrome in Spain

(2013) Verónica Delgadillo et al.   Orphanet Journal of Rare Diseases

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

(2012) Stephan Kemp et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2012) Françoise Piguet et al.   HUMAN GENE THERAPY

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

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

Adeno-Associated Virus Antibody Profiles in Newborns, Children, and Adolescents

(2011) Roberto Calcedo et al.   Clinical and Vaccine Immunology

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

(2011) Minke H de Ru et al.   Orphanet Journal of Rare Diseases

Clarifying lysosomal storage diseases

(2011) Mark L. Schultz et al.   TRENDS IN NEUROSCIENCES

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

(2010) Bénédicte Héron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical aspects of neuropathic lysosomal storage disorders

(2010) Laura Bannach Jardim et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes

(2010) N Matthew Ellinwood et al.   MOLECULAR THERAPY

Metachromatic Leukodystrophy – An Update

(2010) V. Gieselmann et al.   NEUROPEDIATRICS

Progress and prospects: immune responses to viral vectors

(2009) S Nayak et al.   GENE THERAPY

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

(2009) N. Cartier et al.   SCIENCE

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

Expanded Repertoire of AAV Vector Serotypes Mediate Unique Patterns of Transduction in Mouse Brain

(2008) Cassia N Cearley et al.   MOLECULAR THERAPY