Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies.

Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review will summarize and discuss the available and potential future therapeutic options for patients with MPS III. This includes enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), chaperone-mediated therapy, and gene therapy. Although clinical efficacy has not yet been fully demonstrated for any of these therapies, it is likely that future developments will lead to disease-modifying treatment for this devastating disease.

[1]  Y. Chien,et al.  Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. , 2010, Clinica chimica acta; international journal of clinical chemistry.

[2]  Y. Chien,et al.  Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. , 2010, Molecular genetics and metabolism.

[3]  R. Tomanin,et al.  Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II , 2010, British journal of pharmacology.

[4]  B. Bigger,et al.  Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. , 2010, Molecular genetics and metabolism.

[5]  R. Schiffmann.  Therapeutic approaches for neuronopathic lysosomal storage disorders , 2010, Journal of Inherited Metabolic Disease.

[6]  Carmela Di Domenico,et al.  Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice , 2010, Journal of Inherited Metabolic Disease.

[7]  Consuelo Borras,et al.  Estradiol or genistein prevent Alzheimer's disease-associated inflammation correlating with an increase PPARγ expression in cultured astrocytes , 2010, Brain Research.

[8]  B. Ozbaran,et al.  Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status , 2010, Brain and Development.

[9]  J. Tolar,et al.  Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. , 2010, Pediatric clinics of North America.

[10]  D. Scherman,et al.  Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones , 2010, Journal of Inherited Metabolic Disease.

[11]  V. Pillay,et al.  Advances in the treatment of neurodegenerative disorders employing nanotechnology , 2010, Annals of the New York Academy of Sciences.

[12]  G. Węgrzyn,et al.  Different amounts of isoflavones in various commercially available soy extracts in the light of gene expression‐targeted isoflavone therapy , 2010, Phytotherapy research : PTR.

[13]  E. Norman,et al.  Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study. , 2009, Molecular genetics and metabolism.

[14]  Manfred Schmidt,et al.  Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy , 2009, Science.

[15]  G. Węgrzyn,et al.  Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. , 2009, Molecular genetics and metabolism.

[16]  A. Pshezhetsky,et al.  Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C , 2009, PloS one.

[17]  G. Parenti.  Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics , 2009, EMBO molecular medicine.

[18]  V. Pillay,et al.  Nanotechnological applications for the treatment of neurodegenerative disorders , 2009, Progress in Neurobiology.

[19]  P. Sanberg,et al.  Intravenous administration of human umbilical cord blood cells in an animal model of MPS III B , 2009, The Journal of comparative neurology.

[20]  D. Millington,et al.  Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory , 2009, Muscle & nerve.

[21]  L. Nitsch,et al.  Intracranial gene delivery of LV‐NAGLU vector corrects neuropathology in murine MPS IIIB , 2009, American journal of medical genetics. Part A.

[22]  Liang Jiang,et al.  Antitumor effects of polysorbate-80 coated gemcitabine polybutylcyanoacrylate nanoparticles in vitro and its pharmacodynamics in vivo on C6 glioma cells of a brain tumor model , 2009, Brain Research.

[23]  G. Węgrzyn,et al.  Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway , 2009, Journal of Biomedical Science.

[24]  J. E. Wraith,et al.  Mucopolysaccharidosis I: Management and Treatment Guidelines , 2009, Pediatrics.

[25]  D. Scherman,et al.  Identification of new markers for neurodegeneration process in the mouse model of Sly disease as revealed by expression profiling of selected genes , 2008, Journal of neuroscience research.

[26]  W. Chuang,et al.  Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. , 2008, Clinical chemistry.

[27]  F. Bushman,et al.  Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. , 2008, The Journal of clinical investigation.

[28]  W. D. de Jong,et al.  Drug delivery and nanoparticles: Applications and hazards , 2008, International journal of nanomedicine.

[29]  D. Begley,et al.  Lysosomal storage diseases and the blood-brain barrier. , 2008, Current pharmaceutical design.

[30]  A. Boraston,et al.  Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB , 2008, Proceedings of the National Academy of Sciences.

[31]  G. Węgrzyn,et al.  Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. , 2008, Current therapeutic research, clinical and experimental.

[32]  B. Poorthuis,et al.  Sanfilippo syndrome: A mini-review , 2008, Journal of Inherited Metabolic Disease.

[33]  W. Pardridge,et al.  Genetic engineering, expression, and activity of a chimeric monoclonal antibody-avidin fusion protein for receptor-mediated delivery of biotinylated drugs in humans. , 2008, Bioconjugate chemistry.

[34]  L. Clarke.  The mucopolysaccharidoses: a success of molecular medicine , 2008, Expert Reviews in Molecular Medicine.

[35]  A. Ballabio,et al.  Lysosomal storage diseases as disorders of autophagy , 2008, Autophagy.

[36]  A. Ballabio,et al.  Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. , 2007, Human molecular genetics.

[37]  S. Ishii,et al.  Active‐site‐specific chaperone therapy for Fabry disease , 2007, The FEBS journal.

[38]  M. Haskins,et al.  Gene therapy for mucopolysaccharidosis , 2007, Expert opinion on biological therapy.

[39]  Jeffrey D. Esko,et al.  Heparan sulphate proteoglycans fine-tune mammalian physiology , 2007, Nature.

[40]  J. Hopwood,et al.  Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. , 2007, Molecular genetics and metabolism.

[41]  J. Esko,et al.  Glycan Antagonists and Inhibitors: A Fount for Drug Discovery , 2007, Critical reviews in biochemistry and molecular biology.

[42]  C. Parish.  The role of heparan sulphate in inflammation , 2006, Nature Reviews Immunology.

[43]  G. Sinclair,et al.  Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease. , 2006, Molecular genetics and metabolism.

[44]  G. Węgrzyn,et al.  Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses , 2006, European Journal of Human Genetics.

[45]  R. Brady.  Enzyme replacement for lysosomal diseases. , 2006, Annual review of medicine.

[46]  M. Delatycki,et al.  Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study , 2005, Archives of Disease in Childhood.

[47]  W. Szarek,et al.  Biological evaluation of a series of 2-acetamido-2-deoxy-D-glucose analogs towards cellular glycosaminoglycan and protein synthesis in vitro , 2005, Glycoconjugate Journal.

[48]  P. Walczak,et al.  Human Umbilical Cord Blood Progenitors: The Potential of These Hematopoietic Cells to Become Neural , 2005, Stem cells.

[49]  W. Sly,et al.  Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[50]  P. Sanberg,et al.  Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B. , 2005, Stem cells and development.

[51]  T. Tsai.  Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application. , 2005, Journal of chromatography. A.

[52]  C. Wessig,et al.  Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. , 2005, Human molecular genetics.

[53]  Russell J Mumper,et al.  Novel D-penicillamine carrying nanoparticles for metal chelation therapy in Alzheimer's and other CNS diseases. , 2005, European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V.

[54]  S. Walkley,et al.  Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders , 2004, The Journal of comparative neurology.

[55]  A. Cressant,et al.  Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum , 2004, The Journal of Neuroscience.

[56]  A. Kulkarni,et al.  Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. , 2004, Biochimica et biophysica acta.

[57]  W. Mobley,et al.  Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. , 2004, Molecular genetics and metabolism.

[58]  R. Brady,et al.  Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease , 2004, Journal of Inherited Metabolic Disease.

[59]  S. Ryazantsev,et al.  Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. , 2004, Molecular genetics and metabolism.

[60]  P. Savas,et al.  Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. , 2004, Molecular genetics and metabolism.

[61]  S. Walkley.  Secondary accumulation of gangliosides in lysosomal storage disorders. , 2004, Seminars in cell & developmental biology.

[62]  J. Kreuter.  Influence of the surface properties on nanoparticle-mediated transport of drugs to the brain. , 2004, Journal of nanoscience and nanotechnology.

[63]  R. Mumper,et al.  Evaluation of blood–brain barrier thiamine efflux using the in situ rat brain perfusion method , 2003, Journal of neurochemistry.

[64]  J. Huntington.  Mechanisms of glycosaminoglycan activation of the serpins in hemostasis , 2003, Journal of thrombosis and haemostasis : JTH.

[65]  S. Ryazantsev,et al.  Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[66]  Christof von Kalle,et al.  A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. , 2003, The New England journal of medicine.

[67]  M. Delatycki,et al.  Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians , 2002, Clinical genetics.

[68]  Patrick Couvreur,et al.  Quantification and localization of PEGylated polycyanoacrylate nanoparticles in brain and spinal cord during experimental allergic encephalomyelitis in the rat , 2002, The European journal of neuroscience.

[69]  Z. Molnár,et al.  Progressive Neuronal and Motor Dysfunction in Mice Overexpressing the Serine Protease Inhibitor Protease Nexin-1 in Postmitotic Neurons , 2001, The Journal of Neuroscience.

[70]  E. van Nood,et al.  Flavonoids: a review of probable mechanisms of action and potential applications. , 2001, The American journal of clinical nutrition.

[71]  M. Haskins,et al.  Articular Chondrocytes from Animals with a Dermatan Sulfate Storage Disease Undergo a High Rate of Apoptosis and Release Nitric Oxide and Inflammatory Cytokines: A Possible Mechanism Underlying Degenerative Joint Disease in the Mucopolysaccharidoses , 2001, Laboratory Investigation.

[72]  E. Neufeld,et al.  Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. , 2000, Protein expression and purification.

[73]  V. Kosma,et al.  Enzyme replacement therapy in a mouse model of aspartylglycosaminuria , 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[74]  M. Fanselow,et al.  Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[75]  J. E. Wraith,et al.  Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling , 1999, Journal of Inherited Metabolic Disease.

[76]  B. Davidson,et al.  Gene therapy for lysosomal storage diseases. , 1998, Molecular therapy : the journal of the American Society of Gene Therapy.

[77]  T. Daly,et al.  Gene therapy for lysosomal storage diseases. , 1998, Expert opinion on investigational drugs.

[78]  J. Alroy,et al.  Caprine Mucopolysaccharidosis‐IIID: Clinical, Biochemical, Morphological and Immunohistochemical Characteristics , 1998, Journal of neuropathology and experimental neurology.

[79]  S. Walkley,et al.  Lysosomal Storage Diseases of Animals: An Essay in Comparative Pathology , 1997, Veterinary pathology.

[80]  L. Lockman,et al.  Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases , 1995, Cell transplantation.

[81]  D. Frappaz,et al.  Allogeneic bone marrow transplantation for lysosomal storage diseases , 1995, The Lancet.

[82]  E. Tunçbilek,et al.  Sanfilippo disease type B. A case report and review of the literature on recent advances in bone marrow transplantation. , 1995, The Turkish journal of pediatrics.

[83]  W. Sly,et al.  Enzyme replacement therapy for murine mucopolysaccharidosis type VII. , 1994, The Journal of clinical investigation.

[84]  J. E. Wraith,et al.  Management of mucopolysaccharidosis type III. , 1993, Archives of disease in childhood.

[85]  M. Yanagishita,et al.  Differential effect of brefeldin A on the biosynthesis of heparan sulfate and chondroitin/dermatan sulfate proteoglycans in rat ovarian granulosa cells in culture. , 1993, The Journal of biological chemistry.

[86]  M. New,et al.  Bone marrow transplantation for Sanfilippo disease type B , 1992, Journal of Inherited Metabolic Disease.

[87]  R L Jackson,et al.  Glycosaminoglycans: molecular properties, protein interactions, and role in physiological processes. , 1991, Physiological reviews.

[88]  K. Austen,et al.  Novel inhibition of proteoglycan synthesis and exocytosis by diethylcarbamazine in the Swarm rat chondrocyte. , 1985, The Journal of biological chemistry.

[89]  V. Hascall,et al.  Effects of monensin on the synthesis, transport, and intracellular degradation of proteoglycans in rat ovarian granulosa cells in culture. , 1985, The Journal of biological chemistry.

[90]  A. Barrett,et al.  Reversal of clinical features of hurler's disease and biochemical improvement after treatment by bone marrow transplantation , 1982, Journal of Inherited Metabolic Disease.

[91]  G. Constantopoulos,et al.  NEUROCHEMISTRY OF THE MUCOPOLYSACCHARIDOSES: BRAIN GLYCOSAMINOGLYCANS, LIPIDS AND LYSOSOMAL ENZYMES IN MUCOPOLYSACCHARIDOSIS TYPE III B (α‐N‐ACETYLGLUCOSAMINIDASE DEFICIENCY) , 1978, Journal of neurochemistry.

[92]  K. von Figura,et al.  Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. , 1978, Proceedings of the National Academy of Sciences of the United States of America.

[93]  J. Clarke,et al.  Treatment of Lysosomal Storage Disorders , 2012, Drugs.

[94]  M. Gelb,et al.  Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). , 2007, Clinical chemistry.

[95]  R. Samulski,et al.  Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

[96]  D. Frappaz,et al.  Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. , 1995, Lancet.