Emerging drugs for lysosomal storage diseases

Bibliography

• Tiede S, Cantz M, Raas-Rothschild A, A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat 2004;24:535
   PubMedGoogle Scholar
• Reczek D, Schwake M, Schroder J, LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007;131:770-83
   PubMed Web of Science ®Google Scholar
• Balreira A, Gaspar P, Caiola D, A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet 2008;17:2238-43
   PubMed Web of Science ®Google Scholar
• Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta 2009;1793:684-96
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54
   PubMed Web of Science ®Google Scholar
• Groth CG, Ringden O. Transplantation in relation to the treatment of inherited disease. Transplantation 1984;38:319-27
   PubMed Web of Science ®Google Scholar
• Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968;162:570-2
   PubMed Web of Science ®Google Scholar
• Barton NW, Brady RO, Dambrosia JM, Replacement therapy for inherited enzyme deficiency – macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324:1464-70
   PubMed Web of Science ®Google Scholar
• Johnson WG, Desnick RJ, Long DM, Intravenous injection of purified hexosaminidase A into patients with Tay-Sachs disease. In: Desnick RJ, Bernlohr R, Krivit W, editors, Enzyme therapy in genetic diseases. Alan R Liss, New York, USA; 1973. p. 120-4
   Google Scholar
• Sauer M, Meissner B, Fuchs D, Allogeneic blood SCT for children with Hurler's syndrome: results from the German multicenter approach MPS-HCT 2005. Bone Marrow Transplant 2009;43:375-81
   PubMed Web of Science ®Google Scholar
• Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol 2004;26:119-32
   PubMed Web of Science ®Google Scholar
• Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-39
   PubMed Web of Science ®Google Scholar
• Orchard PJ, Tolar J. Transplant outcomes in leukodystrophies. Semin Hematol 2010;47:70-8
   PubMed Web of Science ®Google Scholar
• Grigull L, Beilken A, Schrappe M, Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler). Bone Marrow Transplant 2005;35:265-9
   PubMed Web of Science ®Google Scholar
• Weinreb NJ. Imiglucerase and its use for the treatment of Gaucher's disease. Expert Opin Pharmacother 2008;9:1987-2000
   PubMed Web of Science ®Google Scholar
• Vellodi A, Tylki-Szymanska A, Davies EH, Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009;32:660-4
   PubMed Web of Science ®Google Scholar
• Zimran A, Altarescu G, Phillips M, Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood 2010;115:4651-6
   Google Scholar
• Mehta A, Beck M, Elliott P, Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96
   PubMed Web of Science ®Google Scholar
• Banikazemi M, Bultas J, Waldek S, Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146:77-86
   PubMed Web of Science ®Google Scholar
• Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004;144:S27-34
   PubMed Web of Science ®Google Scholar
• Clarke LA, Wraith JE, Beck M, Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009;123:229-40
   PubMed Web of Science ®Google Scholar
• Muenzer J, Beck M, Eng CM, Multidisciplinary management of Hunter syndrome. Pediatrics 2009;124:e1228-39
   PubMed Web of Science ®Google Scholar
• Harmatz P, Giugliani R, Schwartz D IV, 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. Mol Gen Metab 2008;94:469-75
   PubMed Web of Science ®Google Scholar
• Nicolino M, Byrne B, Wraith JE, Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11:210-9
   PubMed Web of Science ®Google Scholar
• Strothotte S, Strigl-Pill N, Grunert B, Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 2010;257:91-7
   PubMed Web of Science ®Google Scholar
• Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-5
   PubMed Web of Science ®Google Scholar
• Cox T, Lachmann R, Hollak C, Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5
   PubMed Web of Science ®Google Scholar
• Pastores GM, Elstein D, Hrebicek M, Zimran A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther 2007;29:1645-54
   PubMed Web of Science ®Google Scholar
• Patterson MC, Vecchio D, Prady H, Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765-72
   PubMed Web of Science ®Google Scholar
• Biomarin pipeline: GALNS for MPS IVA (Morquio A Syndrome). Available from: http://www.bmrn.com/pipeline/morquio-syndrome.php. [Accessed 29 May 2010]
   Google Scholar
• Shire pipeline. Available from: http://www.shire.com/shireplc/en/rd/pipeline. [Accessed 29 May 2010]
   Google Scholar
• Shaaltiel Y, Bartfeld D, Hashmueli S, Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system. Plant Biotechnol J 2007;5:579-90
   PubMed Web of Science ®Google Scholar
• Nishioka T, Tomatsu S, Gutierrez MA, Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab 2006;88:244-55
   PubMed Web of Science ®Google Scholar
• Millan JL, Narisawa S, Lemire I, Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008;23:777-87
   PubMed Web of Science ®Google Scholar
• Munoz-Rojas MV, Vieira T, Costa R, Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A 2008;146A:2538-44
   PubMed Web of Science ®Google Scholar
• Kreuter J. Nanoparticulate systems for brain delivery of drugs. Adv Drug Deliv Rev 2001;47:65-81
   PubMed Web of Science ®Google Scholar
• Friso A, Tomanin R, Alba S, Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med 2005;7:1482-91
   PubMed Web of Science ®Google Scholar
• Grubb JH, Vogler C, Levy B, Chemically modified beta-glucuronidase crosses blood–brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 2008;105:2616-21
   PubMed Web of Science ®Google Scholar
• Urayama A, Grubb JH, Banks WA, Sly WS. Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor. Proc Natl Acad Sci USA 2007;104:12873-8
   PubMed Web of Science ®Google Scholar
• Lu JZ, Hui EK, Boado RJ, Pardridge WM. Genetic engineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase. Bioconjug Chem 2010;21:151-6
   PubMed Web of Science ®Google Scholar
• Raben N, Fukuda T, Gilbert AL, Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005;11:48-56
   PubMed Web of Science ®Google Scholar
• Kishnani PS, Corzo D, Nicolino M, Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99-109
   PubMed Web of Science ®Google Scholar
• Sun B, Kulis MD, Young SP, Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine Pompe disease. Mol Ther 2010;18:353-60
   PubMed Web of Science ®Google Scholar
• Zhu Y, Jiang J-L, Gumlaw NK, Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther 2009;17:954-63
   PubMed Web of Science ®Google Scholar
• Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 2009;1:268-79
   PubMed Web of Science ®Google Scholar
• Khanna R, Soska R, Lun Y, The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 2010;18:23-33
   PubMed Web of Science ®Google Scholar
• Porto C, Cardone M, Fontana F, The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 2009;17:964-71
   PubMed Web of Science ®Google Scholar
• Tropak MB, Kornhaber GJ, Rigat BA, Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. ChemBioChem 2008;9:2650-62
   PubMed Web of Science ®Google Scholar
• Benjamin ER, Flanagan JJ, Schilling A, The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 2009;32:424-40
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Germain DP, Castelli J, Phase 2 clinical trials of the pharmacological chaperone AT1001 for the treatment of Fabry disease. 58th Annual Meeting American Society of Human Genetics; 11 – 15 November 2008; Philadelphia, PA
   Google Scholar
• Maegawa GH, Tropak M, Buttner J, Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem 2007;282:9150-61
   PubMed Web of Science ®Google Scholar
• Maegawa GH, Tropak MB, Buttner JD, Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009;284:23502-16
   PubMed Web of Science ®Google Scholar
• Kolter T, Sandhoff K. Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. Annu Rev Cell Dev Biol 2005;21:81-103
   PubMed Web of Science ®Google Scholar
• Kirkegaard T, Roth AG, Petersen NH, Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010;463:549-53
   PubMed Web of Science ®Google Scholar
• Brooks DA, Muller VJ, Hopwood JJ. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med 2006;12:367-73
   PubMed Web of Science ®Google Scholar
• Hein LK, Bawden M, Muller VJ, Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004;338:453-62
   PubMed Web of Science ®Google Scholar
• Welch EM, Barton ER, Zhuo J, PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91
   PubMed Web of Science ®Google Scholar
• Kerem E, Hirawat S, Armoni S, Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372:719-27
   PubMed Web of Science ®Google Scholar
• McEachern KA, Fung J, Komarnitsky S, A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab 2007;91:259-67
   PubMed Web of Science ®Google Scholar
• Piotrowska E, Jakobkiewicz-Banecka J, Tylki-Szymanska A, Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr Therap Res 2008;69:166-79
   PubMed Web of Science ®Google Scholar
• Dziedzic D, Wegrzyn G, Jakobkiewicz-Banecka J. Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. Eur J Hum Genet 2010;18:200-5
   PubMed Web of Science ®Google Scholar
• Kaidonis X, Liaw WC, Roberts AD, Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Eur J Hum Genet 2010;18:194-9
   PubMed Web of Science ®Google Scholar
• Liu B, Turley SD, Burns DK, Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci USA 2009;106:2377-82
   PubMed Web of Science ®Google Scholar
• Brown JR, Carroll RS, Duron S, Small Molecule Inhibitors of Glycosaminoglycan Biosynthesis: Substrate Optimization Therapy for the Mucopolysaccharidoses. WORLD Symposium. Miami; 2010
   Google Scholar
• Brown JR, Crawford BE, Esko JD. Glycan antagonists and inhibitors: a fount for drug discovery. Crit Rev Biochem Mol Biol 2007;42:481-515
   PubMed Web of Science ®Google Scholar
• Safety Study of rhASM Enzyme Replacement Therapy in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease). Available from: http://www.genzymeclinicalresearch.com/clinicaltrials/trialdetailresults.asp?nct=NCT00410566. [Accessed 29 May 2010]
   Google Scholar
• A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients with Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®. Available from: http://clinicaltrials.gov/ct2/show/NCT00920647?term=Elaprase&rank=1. [Accessed 29 May 2010]
   Google Scholar
• Brumshtein B, Salinas P, Peterson B, Characterization of gene-activated human acid-{beta}-glucosidase: crystal structure, glycan composition, and internalization into macrophages. Glycobiology 2010;20:24-32
   PubMed Web of Science ®Google Scholar
• Aviezer D, Brill-Almon E, Shaaltiel Y, A plant-derived recombinant human glucocerebrosidase enzyme – a preclinical and phase I investigation. PLoS ONE 2009;4:e4792
   PubMed Web of Science ®Google Scholar
• Pharmaprojects – Copyright to Citeline Drug Intelligence (an Informa business). Readers are referred to Informa-Pipeline (http://informa-pipeline.citeline.com) and Citeline (http://informa.citeline.com)
   Google Scholar
• Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease. Available from: http://clinicaltrials.gov/ct2/show/NCT00925301?term=Amicus&rank=2. [Accessed 29 May 2010]
   Google Scholar
• Hollak CE, Hughes D, van Schaik IN, Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol Drug Saf 2009;18:770-7
   PubMed Web of Science ®Google Scholar
• Schiffmann R, Fitzgibbon EJ, Harris C, Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 2008;64:514-22
   PubMed Web of Science ®Google Scholar
• Vedder AC, Linthorst GE, Houge G, Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2007;2:e598
   PubMed Web of Science ®Google Scholar
• Sirrs S, Clarke JT, Bichet DG, Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab 2010;99:367-73
   PubMed Web of Science ®Google Scholar
• Vedder AC, Breunig F, Donker-Koopman WE, Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 2008;94:319-25
   PubMed Web of Science ®Google Scholar
• Beck M. Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Exp Opin Biol Therap 2009;9:255-61
   PubMed Web of Science ®Google Scholar
• De Jesus VR, Zhang XK, Keutzer J, Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 2009;55:158-64
   PubMed Web of Science ®Google Scholar