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Review

Current and emerging therapies for the lysosomal storage disorders

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Pages 891-902 | Published online: 31 Oct 2005

Bibliography

  • VELLODI A: Lysosomal storage disorders. Br. J. Haematol. (2005) 128(4):L413–L431.
  • RAAS-ROTHSCHILD A, PANKOVA-KHOLMYANSKY I, KACHER Y, FUTERMAN AH: Glycosphingolipidoses: beyond the enzymatic defect. Glycoconj J. (2004) 21(6):295–304.
  • TSUJI D, KUROKI A, ISHIBASHI Y et al.: Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. j Neurochem. (2005) 92(6):1497–1507.
  • Lysosomal disorders of the brain: recent advances in molecular and cellular pathogenesis and treatment. FM Platt, SU Walkley (Eds), Oxford University Press (2004).
  • GOKER-ALPAN O, HRUSKA KS, ORVISKY E et al.: Divergent phenotypes in Gaucher disease implicate the role of modifiers. J. Med. Genet. (2005) 42(6):e37.
  • MEIKLE PJ, RANIERI E, SIMONSEN H et al.: Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy Pediatrics (2004) 114(0909–916.
  • LI Y, SCOTT CR, CHAMOLES NA et al.: Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. (2004) 50(10):1785–1796.
  • OSTRER H: A genetic profile of contemporary Jewish populations. Nat. Rev. Genet. (2001) 2(11):891–898.
  • KRIVIT W, SHAPIRO EG, PETERS C et al.: Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl. J. Med. (1998) 338(16):1119–1126.
  • RAMSAY SL, MAIRE I, BINDLOSS C et al.: Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Mol. Genet. Metab. (2004) 83(3):231–238.
  • GOLD KF, PASTORES GM, BOTTEMAN MF et al.: Quality of life ofpatients with Fabry disease. Quell. Lift Res. (2002) 11(4):317–327.
  • MINERS AH, HOLMES A, SHERR L, JENKINSON C, MACDERMOT KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual. Life Res. (2002) 11(2):127–133.
  • MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. (2001) 38(11):750–760.
  • MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. (2001) 38(11):769–775.
  • GRIENENBERGER A: Understanding orphan drug regulations: an EU and US comparative analysis. J. Biolaw Bus. (2004) 7(3):58–61.
  • ROJAS P: Genzyme finds the target. NASDAQ (2003):15–17.
  • PASTORES GM, MEERE PA: Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr. Opin. Rheumatol (2005) 17(1):70–78.
  • KLETA R, GAHL WA: Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin. Pharmacother. (2004) 5(11):2255–2262.
  • WINTERS JL, PINEDA AA, MCLEOD BC, GRIMA KM: Therapeutic apheresis in renal and metabolic diseases. Clin. Apheresis. (2000) 15(1-2):53–73.
  • SESSA A, MERONI M, BATTINI G et al.: Renal transplantation in patients with Fabry disease. Nephron (2002) 91(2):348–351.
  • CANTOR WJ, DALY P, IWANOCHKO M, CLARKE JT, CUSIMANO RJ, BUTANY J: Cardiac transplantation for Fabry's disease. Can. J. Cardiol (1998) 14(1):81–84.
  • KRIVIT W: Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin. ImmunopathoL (2004) 26(1-2):119–132.
  • PETERS C, STEWARD CG; NATIONAL MARROW DONOR PROGRAM; INTERNATIONAL BONE MARROW TRANSPLANT REGISTRY; WORKING PARTY ON INBORN ERRORS; EUROPEAN BONE MARROW TRANSPLANT GROUP: Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. (2003) 31(4):229.
  • RINGDEN O, GROTH CG, ERIKSON A et al.: Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation (1995) 59:864–870.
  • KRIVIT W, SUNG JH, SHAPIRO EG, LOCKMAN LA: Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant. (1995) 4(4):385–392.
  • VELLODI A, YOUNG E, COOPER A, LIDCHI V, WINCHESTER B, WRAITH JE: Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis. (1999) 22(5):638–648.
  • APPELBAUM FR: The current status of hematopoietic cell transplantation. Ann. Rev. Med. (2003) 54:491–512.
  • ESCOLAR ML, POE MD, PRO VENZALE JM et al.: Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl. J. Med. (2005) 352(20):2069–2081.
  • STABA SL, ESCOLAR ML, POE M et al.: Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl. J. Med. (2004) 350(19):1960–1969.
  • PASTORES GM: Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects. Expert Opin. Ther. Patents (2003) 13(8):1157–1172.
  • SLY WS: Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice. Mo/. Med. (2004) 101(2):100–104.
  • BRADY RO: Enzyme replacement therapy: conception, chaos and culmination. Philos. Trans. R. Soc. Lond. B. Biol. Sci. (2003) 358(1433):915–919.
  • ANDERSEN DC, KRUMMEN L: Recombinant protein expression for therapeutic applications. Curr. Opin. Biotechnol. (2002) 13(2):117–123.
  • SUZUKI K, EZOE T, TOHYAMA J, MATSUDA J, VANIER MT, SUZUKI K: Are animal models useful for understanding the pathophysiology of lysosomal storage disease? Acta Paediatr. SuppL (2003) 92(443):54–62.
  • WEINREB NJ, CHARROW J, ANDERSSON HC et al.: Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am. J. Med. (2002) 113(2):112–119.
  • EAST L, ISACKE CM: The mannose receptor family. Biochim. Biophys. Acta. (2002) 1572(2-3):364–386.
  • CAMPBELL PE, HARRIS CM, VELLODI A: Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology (2004) 63(2):385–387.
  • DOBBELAERE D, SUKNO S, DEFOORT-DHELLEMMES S et al.: Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy. J. Inherit. Metab. Dis. (1998) 21(1):74–76.
  • SCHIFFMANN R, KOPP JB, AUSTIN HA 3RD et al.: Enzyme replacement therapy in Fabry disease: a randomized controlled trial. /AMA. (2001) 285(21):2743–2749.
  • ENG CM, GUFFON N, WILCOX WR et al.: Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N EngL J. Med. (2001) 345(1):9–16.
  • PASTORES GM, THADHANI R: Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin. Biol. Ther. (2002) 2(3):325–333.
  • MOORE DF, ALTARESCU G, HERSCOVITCH P et al.: Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC NeuroL (2002) 2(1):4.
  • WRAITH JE, CLARKE LA, BECK M et al.: Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). j Pediatr. (2004) 144(5):581–588.
  • HARMATZ P, KETTERIDGE D, GIUGLIANI R et al.: Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a Phase II open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics (2005) 115(6):e681–e689.
  • PONCE E, MOSKOVITZ J, GRABOWSKI G: Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. Blood (1997) 90(1):43–48.
  • ROSENBERG M, KINGMA W, FITZPATRICK Mk RICHARDS SM: Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood (1999) 93(6):2081–2088.
  • HUNLEY TE, CORZO D, DUDEK M et al.: Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics (2004) 114(4):e532–e535.
  • KLINGE L, STRAUB V NEUDORF U et al.: Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a Phase II clinical trial. Neuromuscul. Disord. (2005) 15(1):24–31.
  • BUTTERS TD, DWEK RA, PLATT FM: New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Adv. Exp. Med. Biol. (2003) 535:219–226.
  • MCCORMACK PL, GOA KL: Miglustat.Drugs (2003) 63(22):2427–2434.
  • ELSTEIN D, HOLLAK C, AERTS JM et al.: Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J. Inherit. Metab. Dis. (2004) 27(6):757–766.
  • PASTORES GM, BARNETT NL: Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Expert Opin. Investi g: Drugs (2003) 12(2):273–281.
  • PLATT FM, JEYAKUMAR M, ANDERSSON U et al.: Substrate reduction therapy in mouse models of the glycosphingolipidoses. Philos. Trans. R. Soc. Lond. B. Biol. Sci. (2003) 358(1433):947–954.
  • PROIA RL, WU YP: Blood to brain to the rescue. J. Clin. Invest. (2004) 113(8):1108–1110.
  • ABE A, WILD SR, LEE WL, SHAYMAN JA: Agents for the treatment of glycosphingolipid storage disorders. Curr. Drug Metab. (2001) 2(3):331–338.
  • DESNICK RJ: Enzyme replacement and enhancement therapies for lysosomal diseases. J. Inherit. Metab. Dis. (2004) 27(3):385–410.
  • MUCHOWSKI PJ, WACKER JL: Modulation of neurodegeneration by molecular chaperones. Nat. Rev. Neurosci. (2005) 6(1):11–22.
  • FRUSTACI A, CHIMENTI C, RICCI R et al.: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl. J. Med. (2001) 345(1):25–32.
  • SAWKAR AR, CHENG WC, BEUTLER E et al.: Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc. Nail. Acad. Sci. USA (2002) 99(24):15428–15433.
  • MATSUDA J, SUZUKI O, OSHIMA A et al.: Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc. Natl. Acad. Sci. USA (2003) 100(261:15912–15917.
  • TROPAK MB, REID SP, GUIRAL M, WITHERS SG, MAHURAN D: Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients. J. Biol Chem. (2004) 279(1013478–13487.
  • YAM GH, ZUBER C, ROTH J: A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J. (2005) 19(1):12–18.
  • WHITTINGTON R, GOA KL: Alglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher's disease. Pharmacoeconomics (1995) 7(1):63–90.
  • CLARKE JT, AMATO D, DEBER RB. Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. CMAJ (2001) 165(5):595–596.
  • POENARU L: From gene transfer to genetherapy in lysosomal storage diseases affecting the central nervous system. Ann. Med. (2001) 33(1):28–36.
  • IOANNOU YA, ENRIQUEZ A. BENJAMIN C: Gene therapy for lysosomal storage disorders. Expert Opin. Biol. Ther. (2003) 3(5):789–801.
  • VITE CH, MCGOWAN JC, NIOGI SN, PASSINI MA, DROBATZ KJ, HASKINS ME, WOLFE JH. Effective gene therapy for an inherited CNS disease in a large animal model. Ann. NeuroL (2005) 57(3):355–364.
  • CONSIGLIO A, QUATTRINI A. MARTINO S et al.: In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Nat. Med. (2001) 7(3):310–316.
  • MATZNER U, SCHESTAG F, HARTMANN D et al.: Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells. Hum. Gene Ther. (2001) 12(9):1021–1033.
  • BIFFI A, DE PALMA M, QUATTRINI A et al.: Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J. Clin. Invest. (2004) 113(8):1118–1129.
  • MARTIN-TOUAUX E, PUECH JP, CHATEAU D et al.: Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy. Hum. MoL Genet. (2002) 11(14):1637–1645.
  • BARRANGER JM, NOVELLI EA: Genetherapy for lysosomal storage disorders. Expert Opin. Biol. Ther. (2001) (5):857–867.
  • SONDHI NR, HACKETT RL, APBLETT SM et al.: Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch. NeuroL (2001) 58:1793–1798.
  • KOZUTSUMI Y, KANAZAWA T, SUN Y et al.: Sphingolipids involved in the induction of multinuclear cell formation. Biochim. Biophys. Acta. (2002) 1582(1-3):138–143.
  • BEGLEY DJ: Delivery of therapeutic agents to the central nervous system: the problems and the possibilities. Pharmacol Ther. (2004) 104(1):29–45.
  • ELSEA SH, LUCAS RE: The mousetrap: what we can learn when the mouse model does not mimic the human disease. ILAR J. (2002) 43(2):66–79.
  • JEYAKUMAR M, SMITH DA, -WILLIAMS IM et al.: NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Ann. Neurol. (2004) 56(5):642–649.

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