Novel therapeutic targets for the treatment of fabry disease

Expert Opinion on Therapeutic Targets

Volumn 11, Issue 6, 2007, Pages 821-833

  Hollak, Carla E M ^a   Vedder, Anouk C ^a   Linthorst, Gabor E ^a   Aerts, Johannes M F G ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Chaperone therapy; Enzyme replacement therapy; Fabry disease; Lysosomal storage disorder; Pathophysiology; Substrate reduction

Indexed keywords

1 DEOXYGALACTONOJIRIMYCIN; ADENOVIRUS VECTOR; AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; CERAMIDE DERIVATIVE; CERAMIDE TRIHEXOSIDE; CHAPERONE; DEXTRO THREO 1 ETHYLENEDIOXYPHENYL 2 PALMITOYLAMINO 3 PYRROLIDINO PROPANOL; DEXTRO THREO 1 PHENYL 2 DECANOYL AMINO 3 MORPHOLINO 1 PROPANOL; GALACTOSE; GLOBOTRIAOSYLCERAMIDE; MIGALASTAT; MIGLUSTAT; MYELOPEROXIDASE; PLACEBO; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

BLOOD BRAIN BARRIER; CLINICAL TRIAL; DIARRHEA; DNA POLYMORPHISM; DOSAGE SCHEDULE COMPARISON; DRUG COST; DRUG DESIGN; DRUG EFFICACY; DRUG POTENCY; DRUG SAFETY; DRUG SYNTHESIS; DRUG TARGETING; ENDOTHELIAL DYSFUNCTION; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME REPLACEMENT; FABRY DISEASE; FLATULENCE; GASTROINTESTINAL TOXICITY; GAUCHER DISEASE; GENETIC PREDISPOSITION; GENETIC TRANSDUCTION; HEART INFARCTION; HUMAN; IMMUNOLOGICAL TOLERANCE; LYSOSOME STORAGE DISEASE; NONHUMAN; NONVIRAL GENE THERAPY; PROTEIN CONFORMATION; QUALITY OF LIFE; REVIEW; TAY SACHS DISEASE; VIRAL GENE DELIVERY SYSTEM;

ALPHA-GALACTOSIDASE; ANIMALS; DRUG DELIVERY SYSTEMS; FABRY DISEASE; GENE THERAPY; HUMANS;

EID: 34250210522     PISSN: 14728222     EISSN: None     Source Type: Journal    
DOI: 10.1517/14728222.11.6.821     Document Type: Review

References (104)

1. DESNICK RJ, IOANNOU YA: α-Galactosidase a deficiency. Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease (8th edn), Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, USA (2001):3733-3774.
2. MEIKLE PJ, HOPWOOD JJ, CIAGUE AE, CAREY WF: Prevalence of lysosomal storage disorders. J. Am. Med. Assoc. (1999) 281:249-254.
3. ELLEDER M: Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Acta Paediatr. Suppl. (2003) 92(443):46-53
4. 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) 38:769-775.
5. WHYBRA C, KAMPMANN C, WILLERS I, DAVIES J et al.: Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J. Inherit. Metab. Dis. (2001) 24:715-724.
6. GUPTA S, RIES M, KOTSOPOULOS S, SCHIFFMANN R: The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (2005) 84:261-268.
7. DEEGAN P, BAEHNER AF, BARBA-ROMERO MA, HUGHES D et al.: Natural history of Fabry disease in females in the Fabry Outcome Survey. J. Med. Genet. (2006) 43:347-352.
8. WANG RY, LELIS A, MIROCHA J, WILCOX WR: Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. (2007) 9(1):34-45.
9. LACOMIS D, ROESKE-ANDERSON L, MATHIE L: Neuropathy and Fabry's disease. Muscle Nerve (2005) 31(1):102-107.
10. VEDDER AC, LINTHORST GE, VAN BREEMEN MJ et al.: The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J. Inherit. Metab. Dis. (2007) 30(1):68-78.
11. NAKAO S, TAKENAKA T, MAEDA M et al.: An atypical variant of Fabrys disease in men with left ventricular hypertrophy. N. Engl. J. Med. (1995) 333(5):288-293.
12. NAKAO S, KODAMA C, TAKENAKA T et al.: Fabry disease: detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int. (2003) 64(3):801-807.
13. SHABBEER J, YASUDA M, BENSON SD, DESNICK RJ: Fabry disease: identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum. Genomics (2006) 2(5):297-309.
14. SCHAEFER E, MEHTA A, GAL A: Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr. Suppl. (2005) 94(447):87-92.
15. OHSHIMA T. MURRAY GJ, SWAIM WD et al.: α-Galactosidase A deficient mice: a model of Fabry disease. Proc. Natl. Acad. Sci. USA (1997) 94:2540-2544.
16. ISHII S, YOSHIOKA H, MANNEN K, KULKARNI AB, FAN JQ: Transgenic mouse expressing human mutant α-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim. Biophys. Acta. (2004) 1690(3):250-257.
17. BRADY RO: The lipid storage diseases: new concepts and control. Ann. Intern. Med. (1975) 82(2):257-261.
18. DE DUVE C: From cytases to lysosomes. Fed. Proc. (1964) 23:1045-1049
19. BRADY RO, TALLMAN JF, JOHNSON WG et al.: Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N. Engl. J. Med. (1973) 289(1):9-14.
20. BRADY RO, PENTCHEV PG, GAL AE, HIBBERT SR, DEKABAN AS: Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N. Engl. J. Med. (1974) 291(19):989-993.
21. BRADY RO, PENTCHEV PG, GAL AG: Investigations in enzyme replacement therapy in lipid storage diseases. Fed. Proc. (1975) 34(5):1310-1315.
22. FURBISH FS, STEER CJ, KRETT NL, BARRANGER. JA: Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim. Biophys. Acta (1981) 673(4):425-434.
23. 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 α-L-iduronidase (laronidase). J. Pediatr. (2004) 144(5):581-588.
24. HARMATZ P, GIUGLIANI R, SCHWARTZ I et al.: MPS VI Phase III Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase III, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. (2006) 148(4):533-539.
25. VAN DEN HOUT H, REUSER AJ, VULTO AG et al.: Recombinant human α-glucosidase from rabbit milk in Pompe patients. Lancet (2000) 356(9227):397-398.
26. KLINGE L, STRAUB V, NEUDORF U et al.: Safety and efficacy of recombinant acid α-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a Phase II clinical trial. Neuromuscul. Disord. (2005) 15(1):24-31.
27. MUENZER J, GUCSAVAS-CALIKOGLU M, MCCANDLESS SE, SCHUETZ TJ, KIMURA A: A Phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol. Genet. Metab. (2007) 90(3):329-337.
28. PLATT FM, NEISES GR, REINKENSMEIER G et al.: Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science (1997) 276:428-431.
29. COX T, LACHMANN R, HOLLAK C et al.: Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet (2000) 355:1481-1485.
30. 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) 27:57-766.
31. FAN JQ: A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol. Sci. (2003) 24:355-360.
32. STEET R, CHUNG S, LEE WS, PINE CW, DO H, KORNFELD S: Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-β-glucosidase. Biochem, Pharmacol. (2007) 73(9):1376-1383.
33. YAM GH, BOSSHARD N, ZUBER C, STEINMANN B, ROTH J: Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am. J. Physiol. Cell Physiol. (2006) 290(4):C1076-C1082.
34. BARTON NW, BRADY RO, DAMBROSIA JM et al.: Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. (1991) 324(21):1464-1470.
35. PASTORES GM, SIBILLE AR, GRABOWSKI GA: Enzyme therapy in Gaucher disease Type 1: Dosage efficacy and adverse effects in 33 patients treated for 6-24 months. Blood (1993) 82:408-416.
36. HOLLAK CE, AERTS JM, GOUDSMIT R et al.: Individualised low-dose alglucerase therapy for Type 1 Gaucher's disease. Lancet (1995) 345(8963):1474-1478.
37. SCHIFFMANN R, KOPP JB, AUSTIN HA et al.: Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA (2001) 285:2743-2749.
38. ENG CM, GUFFON N, WILCOX WR et al.: Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N. Engl. J. Med. (2001) 345:9-16.
39. SCHIFFMANN R, FLOETER MK, DAMBROSIA JM et al.: Enzy replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve (2003) 28:703-710.
40. MOORE DF, SCOTT LT, GLADWIN MT et al.: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation (2001) 104:1506-1512.
41. MOORE DF, ALTARESCU G, LING GS et al.: Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke (2002) 33:525-531.
42. MOORE DF, ALTARESCU G, HERSCOVITCH P, SCHIFFMANN R: Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC. Neurol. (2002) 2:4.
43. HAJIOFF D, ENEVER Y, QUINEY R et al.: Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J. Inherit. Metab. Dis. (2003) 26:787-794.
44. DEHOUT F, ROLAND D, DE GRANSEIGNE ST, GUILLAUME B, VAN MALDERGEM L: Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J. Inherit. Metab. Dis. (2004) 27:499-505.
45. BAEHNER F, KAMPMANN C, WHYBRA C et al.: Enzyme replacement therapy in heterozygous females with Fabry disease: results of a Phase IIIB study. J. Inherit. Metab. Dis. (2003) 26:617-627.
46. SCHIFFMANN R, RIES M, TIMMONS M, FLAHERTY JT, BRADY RO: Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol. Dial, Transplant. (2006) 21:345-354.
47. SCHIFFMANN R, HAUER P, FREEMAN B et al.: Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve (2006) 34:53-56.
48. RIES M, CLARKE JT, WHYBRA C et al.: Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 118:924-932.
49. RAMASWAMI U, WENDT S, PINTOS-MORELL G et al.: Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. (2007) 96:122-127.
50. BECK M, RICCI R, WIDMER U et at.: Fabry disease: overall effects of agalsidase alfa treatment. Eur. J. Clin. Invest. (2004) 34:838-844.
51. HOFFMANN B, GARCIA DL, MEHTA A et al.: Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J. Med. Genet. (2005) 42:247-252.
52. SCHWARTING A, DEHOUT F, FERIOZZI S et al.: Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin. Nephrol. (2006) 66:77-84.
53. WEIDEMANN F, BREUNIG F, BEER M et al.: Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease. A prospective strain rate imaging study. Circulation (2003) 108(11):1299-1301.
54. SPINELLI L, PISANI A, SABBATINI M et al.: Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease. Clin. Genet. (2004) 66:158-165.
55. ELLIOTT PM, KINDLER H, SHAH JS et al.: Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with α galactosidase A. Heart (2006) 92:357-360.
56. HILZ MJ, BRYS M, MARTHOL H, STEMPER B, DUTSCH M: Enzyme replacement therapy improves function of C, Aδ-, and Aβ-nerve fibers in Fabry neuropathy. Neurology (2004) 62:1066-1072.
57. WILCOX WR, BANIKAZEMI M, GUFFON N et al.: Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. (2004) 75:65-74.
58. BREUNIG F, WEIDEMANN F, STROTMANN J, KNOLL A, WANNER C: Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. (2006) 69:1216-1221.
59. BANIKAZEMI M, BULTAS J, WALDEK S et al.: Agalsidase-β therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med. (2007) 146:77-86.
60. PASTORES GM, THADHANI R: Enzyme-replacement therapy for Anderson-Fabry disease. Lancet (2001) 358:601-603.
61. BENGTSSON BA, JOHANSSON JO, HOLLAK C, LINTHORST G, FELDTRASMUSSEN U: Enzyme replacement in Anderson-Fabry disease. Lancet (2003) 361:352.
62. BLOM D, SPEIJER D, LINTHORST GE, DONKER-KOOPMAN WG, STRIJLAND A, AERTS JM Recombinant enzyme therapy for Fabry disease. Absence of editing of human α-Galactosidase A mRNA. Am. J. Hum. Genet. (2003) 72:23-31.
63. LEE Y, JIN X, ZHANG K, COPERTINO L et al.: A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology (2003) 13:305-313.
64. SAKURABA H, MURATA-OHSAWA M, KAWASHIMA I et al.: Comparison of the effects of agalsidase alfa and agalsidase β on cultured human Fabry fibroblasts and Fabry mice. J. Hum. Genet. (2005) 51:180-188.
65. LINTHORST GE, HOLLAK CE, DONKER-KOOPMAN WE, STRIJLAND A, AERTS JM: Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase α and β. Kidney Int. (2004) 66:1589-1595.
66. MURRAY GJ, ANVER MR, KENNEDY MA, QUIRK JM, SCHIFFMANN R: Cellular and tissue distribution of intravenously administered agalsidase alfa. Mol. Genet. Metab. (2007) 90:307-312.
67. CHRISTENSEN EI, ZHOU Q, SORENSEN SS et al.: Distribution of α-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant α-galactosidase A in Fabry mice. J. Am. Soc. Nephrol. (2007) 18:698-706.
68. SCHIFFMANN R, ASKARI H, TIMMONS M et al.: Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J. Am. Soc. Nephrol. (2007) Epub ahead of print.
69. TSUTSUMI A, UCHIDA Y, KANAI T et al.: Corneal findings in a foetus with Fabry's disease. Acta Ophthalmol. (Copenh.) (1984) 62:923-931.
70. ELLEDER M, POUPETOVA H, KOZICH V: [Fetal pathology in Fabry's disease and mucopolysaccharidosis Type I]. Cesk. Patol. (1998) 34:7-12.
71. VEDDER AC, STRIJLAND A, VD BERGH WEERMAN MA et al.: Manifestations of Fabry disease in placental tissue. J. Inherit. Metab. Dis. (2006) 29:106-111.
72. POPLI S, LEEHEY DJ, MOLNAR ZV, NAWAB ZM, ING TS: Demonstration of Fabry's disease deposits in placenta. Am. J. Obstet. Gynecol. (1990) 162:464-465.
73. YOUNG E, MILLS K, MORRIS P et al.: Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr. Suppl. (2005) 94:51-54.
74. MILLS K, VELLODI A, MORRIS P et al.: Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur. J. Pediatr. (2004) 163(10):595-603.
75. ELLEDER M, BRADOVA V, SMID F et al.: Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch. A Pathol. Anat. Histopathol. (1990) 417:449-455.
76. BARBEY F, BRAKCH N, LINHART A et al.: Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler. Thromb. Vasc. Biol. (2006) 26:839-844.
77. MOORE DF, KANESKI CR, ASKARI H, SCHIFFMANN R. The cerebral vasculopathy of Fabry disease. J. Neurol. Sci. (2007) Epub ahead of print.
78. KANESKI CR, MOORE DF, RIES M, ZIRZOW GC, SCHIFFMANN R: Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease. Neurology (2006) 67:2045-2047.
79. MOORE DF, KROKHIN OV, BEAVIS RC et al.: Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc. Natl. Acad. Sci. USA (2007) 104:2873-2878.
80. ALTARESCU G, MOORE DF, SCHIFFMANN R: Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology (2005) 64:2148-2150.
81. RIES M, GUPTA S, MOORE DF et al.: Pediatric Fabry disease. Pediatrics (2005) 115(3):e344-e355.
82. ENG CM, GERMAIN DP, BANIKAZEMI M et al.: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet. Med. (2006) 8:539-548.
83. RATNER L, VANDER HEYDEN N, DEDERA D: Inhibition of HIVand SIV infectivity by blockade of α-glucosidase activity. Virology (1991) 181:180-192.
84. JACOBS JF, WILLEMSEN MA, GROOT-LOONEN JJ, WEVERS RA, HOOGERBRUGGE PM: Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. (2005) 36:925-926.
85. SHAYMAN JA, LEE L, ABE A, SHU L: inhibitors of glucosylceramidesynthase. Methods Enzymol. (2000) 311:373-387.
86. ABE A, GREGORY S, LEE L et al.: Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J. Clin. Invest. (2000) 105(11):1563-1571.
87. DEAN KJ, SWEELEY CC: Studies on human liver a-galactosidases. II. Purification and enzymatic properties of a-galactosidase B. J. Biol. Chem. (1979) 254:10001-10005.
88. HEARE T, ALP NJ, PRIESTMAN DA et al.: Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J. Inherit. Metab. Dis. (2007) 30(1):79-87.
89. 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) 345:25-32.
90. FAN JQ, ISHII S, ASANO N, SUZUKI Y: Accelerated transport maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat. Med. (1999) 5:112-115.
91. ASANO N, ISHII S, KIZU H et al.: In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycinand its derivatives. Eur. J. Biochem. (2000) 267:4179-4186.
92. YAM GH, BOSSHARD N, ZUBER C, STEINMANN B, ROTH J: Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am. J. Physiol. Cell Physiol. (2006) 290(4):C1076-C1082.
93. MEDIN JA, TUDOR M, SIMOVITCH R et al.: Correction in trans for Fabry disease: expression, secretion and uptake of α-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc. Natl. Acad. Sci. USA (1996) 93(15):7917-7922.
94. TAKENAKA T, MURRAY GJ, QIN G et al.: Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc. Natl. Acad. Sci. USA (2000) 97(13):7515-7520.
95. JUNG SC, HAN IP, LIMAYE A et al.: Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc. Natl. Acad. Sci. USA (2001) 98(5):2676-2681.
96. PARK J, MURRAY GJ, LIMAYE A et al.: Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc. Natl. Acad. Sci. USA (2003) 100(6):3450-3454.
97. QIN G, TAKENAKA T, TELSCH K et al.: Preselective gene therapy for Fabry disease. Proc. Natl. Acad. Sci. USA (2001) 98(6):3428-3433.
98. LI C, ZIEGLER RJ, CHERRY M et al.: Adenovirus-transduced lung as a portal for delivering α-galactosidase A into systemic circulation for Fabry disease. Mol. Ther. (2002) 5(6):745-754.
99. BESSIS N, GARCIACOZAR FJ, BOISSIER MC: Immune responses to gene therapy vectors: influence on vector function and effector mechanisms. Gene Ther. (2004) 11(Suppl. 1):S10-S17.
100. ZIEGLER RJ, LONNING SM, ARMENTANO D et al.: AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of α-galactosidase A and the induction of immune tolerance in Fabry mice. Mol. Ther. (2004) 9(2):231-240.
101. ZIEGLER RJ, CHERRY M, BARBON CM et al.: Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of α-galactosidase A. Mol. Ther. (2007) 15(3):492-500.
102. LIANG SB, YOSHIMITSU M, POEPPL A et al.: Multiple reduced-intensity conditioning regimens facilitate correction of fabry mice after transplantation of transduced cells. Mol. Ther. (2007) 15(3):618-627.
103. PORTEUS MH, CONNELLY JP, PRUETT SM: A look to future directions in gene therapy research for monogenic diseases. PLoS Genet. (2006) 2(9):e133.
104. MCCABE C, CLAXTON K, TSUCHIYA A: Orphan drugs and the NHS, Should we value rarity? Br. Med. J. (2005) 331:1016-1019.