Emerging drugs for the treatment of mucopolysaccharidoses

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

(2015) Joyce E. Fox et al.   MOLECULAR GENETICS AND METABOLISM

Early treatment is associated with improved cognition in Hurler syndrome

(2014) Michele D. Poe et al.   ANNALS OF NEUROLOGY

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys

(2014) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

Gene delivery strategies for the treatment of mucopolysaccharidoses

(2014) Guilherme Baldo et al.   Expert Opinion on Drug Delivery

Current and potential therapeutic strategies for mucopolysaccharidoses

(2014) H. Noh et al.   JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS

Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain

(2014) Barbara King et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

(2014) Christian J. Hendriksz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

(2014) Christian J Hendriksz et al.   Orphanet Journal of Rare Diseases

Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I

(2014) Fabiana Quoos Mayer et al.   PHARMACEUTICAL RESEARCH

Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment

(2014) Michael Frohbergh 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

Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

(2013) Young Bae Sohn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts

(2013) Shih-hsin Kan et al.   BIOCHEMICAL JOURNAL

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

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

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration

(2013) Valeska Lizzi Lagranha et al.   JOURNAL OF MICROENCAPSULATION

Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients

(2013) Ewa Piotrowska et al.   MEDICAL SCIENCE MONITOR

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

(2013) Katherine H. Kim et al.   MOLECULAR GENETICS AND METABOLISM

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

(2013) Vũ Chí Dũng et al.   MOLECULAR GENETICS AND METABOLISM

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

(2013) Young Bae Sohn et al.   Orphanet Journal of Rare Diseases

Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses

(2013) Edward H. Schuchman et al.   PLoS One

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

(2013) Kim M. Keeling et al.   PLoS One

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)

(2013) Shunji Tomatsu et al.   Expert Opinion on Orphan Drugs

Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses

(2012) Zyta Banecka-Majkutewicz et al.   ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-l-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

(2012) Guilherme Baldo et al.   CYTOTHERAPY

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

(2012) Rita Ferla et al.   HUMAN GENE THERAPY

A Genetic Model of Substrate Reduction Therapy for Mucopolysaccharidosis

(2012) William C. Lamanna et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits

(2012) Guilherme Baldo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

(2012) Rosa Bartolomeo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model

(2012) Daniel J. Rowan et al.   MOLECULAR GENETICS AND METABOLISM

Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

(2012) Christian Hendriksz et al.   MOLECULAR GENETICS AND METABOLISM

Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I

(2012) Patricia I. Dickson et al.   MOLECULAR GENETICS AND METABOLISM

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

(2012) Akemi Tanaka et al.   MOLECULAR GENETICS AND METABOLISM

Sialic Acid Deposition Impairs the Utility of AAV9, but Not Peptide-modified AAVs for Brain Gene Therapy in a Mouse Model of Lysosomal Storage Disease

(2012) Yong Hong Chen et al.   MOLECULAR THERAPY

Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats

(2012) Katherine P Ponder et al.   MOLECULAR THERAPY

Intracisternal enzyme replacement therapy in lysosomal storage diseases: dispersal pathways, regional enzyme concentrations and the effect of posttreatment posture

(2012) R. D. Jolly et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

(2012) Pericles Calias et al.   PLoS One

Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII

(2012) H. T. Huynh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genistein in Sanfilippo disease: A randomized controlled crossover trial

(2011) Jessica de Ruijter et al.   ANNALS OF NEUROLOGY

Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies

(2011) J. de Ruijter et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder

(2011) Adeline A. Lau et al.   GENE

Genistein supplementation in patients affected by Sanfilippo disease

(2011) Verónica Delgadillo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases

(2011) Ursula Matte et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation

(2011) Guilherme Baldo et al.   MOLECULAR GENETICS AND METABOLISM

Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood–Brain Barrier Gene Delivery

(2011) Haiyan Fu et al.   MOLECULAR THERAPY

Enzyme replacement reduces neuropathology in MPS IIIA dogs

(2011) Allison C. Crawley et al.   NEUROBIOLOGY OF DISEASE

Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys

(2011) Brian R. Felice et al.   TOXICOLOGIC PATHOLOGY

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

(2010) Marlies J. Valstar et al.   ANNALS OF NEUROLOGY

THE NATURAL HISTORY OF THE SEVERE FORM OF HUNTER'S SYNDROME: A STUDY BASED ON 52 CASES

(2010) I. D. Young et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

(2010) Joseph Muenzer et al.   GENETICS IN MEDICINE

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

Minicircle DNA-based Gene Therapy Coupled With Immune Modulation Permits Long-term Expression of α-L-Iduronidase in Mice With Mucopolysaccharidosis Type I

(2010) Mark J Osborn et al.   MOLECULAR THERAPY

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

(2010) Sung-Chul Jung et al.   MOLECULES AND CELLS

Intracisternal enzyme replacement therapy in lysosomal storage diseases: routes of absorption into brain

(2010) R. D. Jolly et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

(2010) Marcelina Malinowska et al.   PLoS One

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

(2009) Carmela Di Domenico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

(2009) Sema Kalkan Ucar et al.   BRAIN & DEVELOPMENT

Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs—A proof of principle study

(2009) Kim M. Hemsley et al.   MOLECULAR GENETICS AND METABOLISM

Systemic Correction of Storage Disease in MPS I NOD/SCID Mice Using the Sleeping Beauty Transposon System

(2009) Elena L Aronovich et al.   MOLECULAR THERAPY

Structure and function of the blood–brain barrier

(2009) N. Joan Abbott et al.   NEUROBIOLOGY OF DISEASE

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

(2008) Gunilla Malm et al.   ACTA PAEDIATRICA

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

(2008) Maria-Veronica Munoz-Rojas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lysosomal Storage Diseases and the Blood-Brain Barrier

(2008) David Begley et al.   CURRENT PHARMACEUTICAL DESIGN

Safety and one-year efficacy of intrathecal baclofen therapy in children with intractable spastic cerebral palsy

(2008) Marjanke A. Hoving et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice

(2008) K. M. Hemsley et al.   GENES BRAIN AND BEHAVIOR

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells

(2008) Valeska Lizzi Lagranha et al.   METABOLIC BRAIN DISEASE

Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA

(2008) Chantelle McIntyre et al.   MOLECULAR GENETICS AND METABOLISM

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

(2008) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

(2008) L. A. Clarke et al.   PEDIATRICS

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biochemical, Pathological, and Skeletal Improvement of Mucopolysaccharidosis VI After Gene Transfer to Liver but Not to Muscle

(2007) Alessandra Tessitore et al.   MOLECULAR THERAPY