Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II

Molecular Therapy

Volumn 12, Issue 5, 2005, Pages 876-884

  Franco, Luis M ^a,c   Sun, Baodong ^a   Yang, Xiaoyi ^a   Bird, Andrew ^a   Zhang, Haoyue ^a   Schneider, Ayn ^a   Brown, Talmage ^b   Young, Sarah P ^a   Clay, Timothy M ^a   Amalfitano, Andrea ^a   Chen, Y T ^a   Koeberl, Dwight D ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CD8 ANTIGEN; ENZYME ANTIBODY; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS; ADENO ASSOCIATED VIRUS 8; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY RESPONSE; ARTICLE; CELLULAR IMMUNITY; CLINICAL FEATURE; CONTROLLED STUDY; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME LINKED IMMUNOSPOT ASSAY; ENZYME SPECIFICITY; GENE EXPRESSION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; IMMUNE RESPONSE; IMMUNODETECTION; MOUSE; NONHUMAN; PROMOTER REGION; SEROTYPING; T LYMPHOCYTE; VIRAL GENE THERAPY; VIRUS STRAIN;

ALPHA-GLUCOSIDASES; ANIMALS; ANTIBODY FORMATION; CREATINE KINASE; CREATINE KINASE, MM FORM; DEPENDOVIRUS; DNA, VIRAL; ENHANCER ELEMENTS (GENETICS); GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; LIVER; MICE; MICE, KNOCKOUT; MUSCLE, SKELETAL; PLASMIDS; PROMOTER REGIONS (GENETICS);

ADENO-ASSOCIATED VIRUS; ADENO-ASSOCIATED VIRUS 8; ANIMALIA; PARVOVIRUS;

EID: 27744533046     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2005.04.024     Document Type: Article

References (48)

1. R. Hirschhorn and A.J.J. Reuser in: C.R. Scriver A.L. Beaudet W.S. Sly D. Valle (Eds) The Metabolic and Molecular Basis for Inherited Disease 2001 McGraw-Hill New York 3389-3419
2. F. Martiniuk M. Mehler S. Tzall G. Meredith and R. Hirschhorn Sequence of the cDNA and 5′-flanking region for human acid alpha-glucosidase, detection of an intron in the 5′ untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences DNA Cell Biol. 9 1990 85-94
3. L.H. Hoefsloot M. Hoogeveenwesterveld A.J.J. Reuser and B.A. Oostra Characterization of the human lysosomal alpha-glucosidase gene Biochem. J. 272 1990 493-497
4. E. Ponce D.P. Witte R. Hirschhorn M.L. Huie and G.A. Grabowski Murine acid alpha-glucosidase: Cell-specific mRNA differential expression during development and maturation Am. J. Pathol. 154 1999 1089-1096
5. H.A. Wisselaar M.A. Kroos M.M.P. Hermans J. Vanbeeumen and A.J.J. Reuser Structural and functional-changes of lysosomal acid alpha-glucosidase during intracellular-transport and maturation J. Biol. Chem. 268 1993 2223-2231
6. J.L. Van Hove H.W. Yang J.Y. Wu R.O. Brady and Y.T. Chen High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease Proc. Natl. Acad. Sci. USA 93 1996 65-70
7. T. Kikuchi et al. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail J. Clin. Invest. 101 1998 827-833
8. A.G. Bijvoet et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II Hum. Mol. Genet. 8 1999 2145-2153
9. F. Martiniuk et al. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line Biochem. Biophys. Res. Commun. 276 2000 917-923
10. N. Raben et al. Enzyme replacement therapy in the mouse model of Pompe disease Mol. Genet. Metab. 80 2003 159-169
11. A. Amalfitano et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial Genet. Med. 3 2001 132-138
12. D.A. Brooks Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models Mol. Genet. Metab. 68 1999 268-275
13. A. Amalfitano et al. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase Proc. Natl. Acad. Sci. USA 96 1999 8861-8866
14. D.F. Pauly et al. Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease Hum. Gene Ther. 12 2001 527-538
15. E.Y. Ding et al. Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice Hum. Gene Ther. 12 2001 955-965
16. E. Ding et al. Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction Mol. Ther. 5 2002 436-446
17. F. Xu et al. Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model Gene Ther. 11 2004 1590-1598
18. T.R. Flotte and B.J. Carter Adeno-associated virus vectors for gene therapy Gene Ther. 2 1995 357-362
19. T.J. Fraites Jr. et al. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors Mol. Ther. 5 2002 571-578
20. B. Sun et al. Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector Mol. Ther. 7 2003 467-477
21. B.D. Sun Y.T. Chen A. Bird A. Amalfitano et al. D.D. Koeberl Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector Mol. Ther. 7 2003 193-201
22. K.O. Cresawn et al. Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II Hum. Gene Ther. 16 2005 68-80
23. C.D. Scallan et al. Phenotypic correction of a mouse model of hemophilia A using AAV2 vectors encoding the heavy and light chains of FVIII Blood 102 2003 3919-3926
24. R. Sarkar et al. Total correction of hemophilia A mice with canine FVIII using an AAV 8 serotype Blood 103 2004 1253-1260
25. L. Wang K. Takabe S.M. Bidlingmaier C.R. Ill and I.M. Verma Sustained correction of bleeding disorder in hemophilia B mice by gene therapy Proc. Natl. Acad. Sci. USA 96 1999 3906-3910
26. R.J. Ziegler et al. AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice Mol. Ther. 9 2004 231-240
27. G.P. Gao M.R. Alvira L. Wang R. Calcedo J. Johnston and J.M. Wilson Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy Proc. Natl. Acad. Sci. USA 99 2002 11854-11859
28. B. Sun et al.Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II Mol. Ther. 11 2005 57-65
29. H.Y. Zhang B.D. Sun L. Franco A. Bird A. Schneider and D.D. Koeberl Correction of glycogen storage disease type II by intramuscular administration of an adeno-associated virus 6 (AAV2/6) vector containing a muscle-specific promoter Mol. Ther. 9 2004 S329-S330
30. P. Hallgren G. Hansson K.G. Henriksson A. Hager A. Lundblad and S. Svensson Increased excretion of a glucose-containing tetrasaccharide in the urine of a patient with glycogen storage disease type II (Pompe's disease) Eur. J. Clin. Invest. 4 1974 429-433
31. G. Lennartson A. Lundblad S. Sjoblad S. Svensson and P.A. Ockerman Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry Biomed. Mass Spectrom 3 1976 51-54
32. K. Oberholzer and A.C. Sewell Unique oligosaccharide (apparently glucotetrasaccharide) in urine of patients with glycogen storage diseases Clin. Chem. 36 1990 1381
33. Y. An S.P. Young S.L. Hillman J.L. Van Hove Y.T. Chen and D.S. Millington Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease Anal. Biochem. 287 2000 136-143
34. C.R. Ill et al. Optimization of the human factor VIII complementary DNA expression plasmid for gene therapy of hemophilia A Blood Coag. Fibrinol. 8 1997 S23-S30
35. R.O. Snyder et al. Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors Nat. Med. 5 1999 64-70
36. J.D. Mount et al. Sustained phenotypic correction of hemophilia B dogs with a factor IX null mutation by liver-directed gene therapy Blood 99 2002 2670-2676
37. F. Mingozzi et al. Induction of immune tolerance to coagulation factor IX antigen by in vivo hepatic gene transfer J. Clin. Invest. 111 2003 1347-1356
38. P.A. Knolle and G. Gerken Local control of the immune response in the liver Immunol. Rev. 174 2000 21-34
39. K. Yuasa et al. Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product Gene Ther. 9 2002 1576-1588
40. J.E. Loeb W.S. Cordier M.E. Harris M.D. Weitzman and T.J. Hope Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: implications for gene therapy Hum. Gene Ther. 10 1999 2295-2305
41. L. Cordier et al. Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies Hum. Gene Ther. 12 2001 205-215
42. J.M.P. Van den Hout et al. Long term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk Pediatrics 113 2004 E448-E457
43. N. Raben et al. Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: Implications for therapy Hum. Mol. Genet. 10 2001 2039-2047
44. N. Raben et al. Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice Transgenic Res. 12 2003 171-178
45. N. Raben et al. Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II J. Biol. Chem. 273 1998 19086-19092
46. T. Kikuchi et al. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail J. Clin. Invest. 101 1998 827-833
47. S.P. Young R.D. Stevens Y. An Y.T. Chen and D.S. Millington Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry Anal. Biochem. 316 2003 175-180
48. A.C. Hobeika et al. Enumerating antigen-specific T-cell responses in peripheral blood-a comparison of peptide MHC tetramer, ELISpot, and intracellular cytokine analysis J. Immunother. 28 2005 63-72