Advances in the treatment of chronic granulomatous disease by gene therapy

Current Gene Therapy

Volumn 7, Issue 3, 2007, Pages 155-161

  Ott, Marion G ^a   Seger, Reinhard ^c   Stein, Stefan ^b   Siler, Ulrich ^c   Hoelzer, Dieter ^a   Grez, Manuel ^b  

^a GOETHE UNIVERSITY MEDICAL SCHOOL   (Germany)

^b Institute for Biomedical Research   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Busulfan; Chronic granulomatous disease; Gene therapy; Gp91phox; Hematopoietic stem cells; Immunodeficiency; Low intensity conditioning; Retroviral vectors

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; ANTINEOPLASTIC AGENT; BUSULFAN; COMPLEMENTARY DNA; CYCLOPHOSPHAMIDE; FLT3 LIGAND; GAMMA INTERFERON; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; INTERLEUKIN 3; ITRACONAZOLE; LENTIVIRUS VECTOR; NEOMYCIN; PROTEIN P47PHOX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; BONE MARROW CELL; BONE MARROW TRANSPLANTATION; CHRONIC GRANULOMATOUS DISEASE; CLINICAL TRIAL; DNA MODIFICATION; DONOR; DRUG BIOAVAILABILITY; DRUG BLOOD LEVEL; ENGRAFTMENT; GENE THERAPY; GENE TRANSFER; GENETIC TRANSDUCTION; GRAFT VERSUS HOST REACTION; GRANULOCYTE FUNCTION; HEMATOPOIETIC STEM CELL; HLA MATCHING; HUMAN; IMMUNE DEFICIENCY; NONHUMAN; PHAGOCYTE; PNEUMONIA; REVIEW; SAFETY; SIBLING; VIRAL GENE THERAPY;

BONE MARROW TRANSPLANTATION; CLINICAL TRIALS; FEMALE; GENE THERAPY; GENETIC VECTORS; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MALE; SAFETY; TRANSPLANTATION, AUTOLOGOUS; TRANSPLANTATION, HOMOLOGOUS;

EID: 34250185398     PISSN: 15665232     EISSN: None     Source Type: Journal    
DOI: 10.2174/156652307780859044     Document Type: Review

References (47)

1. Abo, A., Pick, E., Hall, A., Totty, N., Teahan, C.G. and Segal, A.W. (1991): Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature, 353:668-670.
2. Aiuti, A., Slavin, S., Aker, M., Ficara, F., Deola, S., Mortellaro, A., Morecki, S. andolfi, G., Tabucchi, A., Carlucci, F., Marinello, E., Cattaneo, F., Vai, S., Servida, P., Miniero, R., Roncarolo, M.G. and Bordignon C. (2002): Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science, 296:2410-2413.
3. Bank, A., Dorazio, R. and Leboulch, P. (2005): A Phase I/II Clinical Trial of β-Globin Gene Therapy for β-Thalassemia. Ann. N. Y. Acad. Sci., 1054:308-316.
4. Barese, C.N., Goebel, W.S. and Dinauer, M.C. (2004): Gene therapy for chronic granulomatous disease. Exp. Opin. Biol. Ther., 4:1423-1434.
5. Cavazzana-Calvo, M., Hacein-Bey, S., de Saint Basile, G., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.L., Bousso, P., Le Deist, F. and Fischer, A. (2000): Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science, 288:669-672.
6. Cross, A.R. and Segal, A.W. (2004): The NADPH oxidase of professional phagocytes - prototype of the NOX electron transport chain systems. Biochim. Biophys. Acta, 1657:1-22.
7. Emery, D.W,, and Stamatoyannopoulos, G. (2005): Use of the cHS4 Chromatin Insulator to Reduce Oncoretrovirus Vector-Mediated Genotoxicity. Mol. Ther., 11(Supplement1):150.
8. Gallin, J.I,, Alling, D.W., Malech, H.L., Wesley, R., Koziol, D., Marciano, B., Eisenstein, E.M., Turner, M.L., DeCarlo, E.S., Starling, J.M. and Holland, S.M. (2003): Itraconazole to prevent fungal infections in chronic granulomatous disease. N. Engl. J. Med., 348:2416-2422.
9. Gaspar, H.B., Parsley, K.L., Howe, S., King, D., Gilmour, K.C., Sinclair, J., Brouns, G., Schmidt, M., Von Kalle, C., Barington, T., Jakobsen, M.A., Christensen, H.O., Al Ghonaium, A., White, H.N., Smith, J.L., Levinsky, R.J., Ali, R.R., Kinnon, C. and Trasher, A.J. (2004): Gene therapy of X-linked severe combined immunodeficiency by use of a pseudo-typed gammaretroviral vector. Lancet, 364:2181-2187.
10. Goebel, W.S., Pech, N.K. and Dinauer, M.C. (2004): Stable long-term gene correction with low-dose radiation conditioning in murine X-linked chronic granulomatous disease. Blood Cells Mol. Dis., 33:365-371.
11. Goebel, W.S., Pech, N.K., Meyers, J.L., Srour, E.F., Yoder, M.C. and Dinauer, M.C. (2004): A murine model of antimetabolite-based, submyeloablative conditioning for bone marrow transplantation: biologic insights and potential applications. Exper. Hematol., 32:1255-1264.
12. Group TICGDCS (1991): A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The International Chronic Granulomatous Disease Cooperative Study Group. N. Engl. J. Med., 324:509-516.
13. Hasui, M. (1999): Chronic granulomatous disease in Japan: Incidence and natural history. The study group of phagocyte disorders of Japan. Pediatr. Int., 41:589-593.
14. Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M.P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C.S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J.I., de Saint Basile, G., Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Saulier, J., Leiva, L.E., Wissler, M., Prinz, C., Rabbitts, T.H., Le Deist, F., Fischer, A. and Cavazzana-Calvo, M. (2003): LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science, 302:415-419.
15. Hacein-Bey-Abina, S., von Kalle, C., Schmidt, M., Le Deist, F., Wulffraat, N., Mcintyre, E., Radford, I., Villeval, J.L., Fraser, C.C., Cavazzana-Calvo, M. and Fischer, A. (2003): A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med., 348:255-256.
16. Horwitz, M.E., Barret, A.J,, Brown, M.R.,, Carter, C.S., Childs, R., Gallin, J.I., Holland, S.M., Linton, G.F., Miller, J.A., Leitman, S.F., Read, E.J. and Malech, H.L. (2001): Treatment of chronic granulomatous disease with non-myeloablative conditioning ant T-cell depleted hematopoietic allograft. N. Engl. J. Med., 344:881-888.
17. Huhn, R.D., Tisdale, J.F., Agricola, B., Metzger, M.E., Donahue, R.E. and Dunbar, C.E. (1999): Retroviral marking and transplantation of rhesus hematopoietic cells by nonmyeloablative conditioning. Hum. Gene Ther., 10:1783-1790.
18. Johnston, R.B., 3rd Harbeck, R.J. and Johnston, R.B. Jr. (1985): Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous disease. J. Pediatr., 106:50-55.
19. Knaus, U.G., Heyworth, P.G., Evans, T., Curnutte, J.T. and Bokoch, G.M. (1991): Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science, 254:1512-1515.
20. Kraunus, J., Schaumann, D.H., Meyer, J., Modlich, U., Fehse, B., Brandenburg, G., von Laer, D., Klump, H., Schambach, A., Bohne, J. and Baum, C. (2004): Self-inactivating retroviral vectors with improved RNA processing. Gene Ther., 11:1568-1578.
21. Lambeth,J.D. (2004): NOX enzymes and the biology of reactive oxygen. Nat. Rev. Immunol., 4:181-189.
22. Malech, H.L., Maples, P.B., Whiting-Theobald, N., Linton, G.F., Sekhsaria, S., Vowells, S.J., Li, F., Miller, J.A., DeCarlo, E., Holland, S.M., Leitman, S.F., Carter, C.C., Butz, R.E., Read, E.J., Fleisher, T.A., Schneidermann, R.D., Van Epps, D.E., Spratt, S.K., Maack, C.K., Rokovich, J.A., Cohen, L.K. and Gallin, J.I. (1997): Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc. Natl. Acad. Sci. USA, 94:12133-12138.
23. Malech, H.L., Horwitz, M.E., Linton, G.F., Whiting-Theobald, N., Brown, M.R., Farrell, C.J., Butz, R.E., Carter, C.S., DeCarlo, E., Miller, JA., Van Epps, D.E., Read, E.J. and Fleisher, T.A. (1998): Extended production of oxidase normal neutrophils in X-linked chronic granulomatous disease (CGD) following gene therapy with gp91phox transduced CD34+cells. Blood, 92 (Suppl 1):690a.
24. Marciano, B.E., Wesley, R., De Carlo, E.S. anderson, V.L., Barnhart, L.A., Darnell, D., Malech, H.L., Gallin, J.I. and Holland, S.M. (2004): Long-term interferon-gamma therapy for 13 patients with chronic granulomatous disease. Clin. Infect. Dis., 39:692-699.
25. Mardiney, M.3rd., Jackson, S.H., Spratt, S.K., Li, F., Holland, S.M. and Malech, H.L. (1997): Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease. Blood, 89:2268-2275.
26. Margolis, D.M., Melnick, D.A., Alling, D.W. and Gallin, J.I. (1990): Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J. Infect. Dis., 162:723-726.
27. Mills, E.L. and Quie, P.G. (1980): Congenital disorders of the function of polymorphonuclear neutrophils. Rev. Infect. Dis., 2:505-517.
28. Ott, M.G., Koehl, U., Sadat, M.A., Merget-Millitzer, H., Stein, S., Saulnier, S., Hossle, J.P., Dinauer, M.C., Seger, R., Hoelzer, D. and Grez, M. (2003): Gene Therapy of Chronic Granulomatous Disease: Results from Pre-Clinical and Phase I Clinical Studies. Mol. Ther., 7(S5):1059.
29. Ott, M.G., Schmidt, M., Schwarzwaelder, K., Stein, S., Siler, U., Koehl, U., Glimm, H., Kuehlcke, K., Schitz, A., Kunkel, H., Naundorf, S., Brinkmann, A., Deichmann, A., Fischer, M., Ball, C., Pilz, I., Dunbar, C., Du, Y., Jenkins, N.A., Copeland, N.G., Luethi, U., Hassan, M., Trasher, A.J., Hoelzer, D., v Kalle, C., Seger, R. and Grez, M. (2006): Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETPB1. Nat. Med., 12: 401-409.
30. Rex, J.H., Bennett, J.E., Gallin, J.I., Malech, H.L. and Melnick, D.A. (1990): Normal and deficient neutrophils can cooperate to damage Aspergillus fumigatus hyphae. J. Infect. Dis., 162:523-528.
31. Roesler, J., Brenner, S., Bukovsky, A.A., Whiting-Theobald, N., Dull, T., Kelly, M., Civin, C.I. and Malech, H.L. (2002): Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease. Blood, 100:4381-4390.
32. Roos, D. and Curnutte, J.T. (1999): Chronic Granulomatous Disease, in: Ochs, H.D., Smith, C.I.E., Puck, J.M. (Eds), Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. Edited by Ochs HD, Smith, C.I.E., Puck, J.M. (Eds). Oxford University Press, New York, pp353-374.
33. Roos, D., van Bruggen, R. and Meischl, C. (2003): Oxidative killing of microbes by neutrophils. Microbes. Infect., 5:1307-1315.
34. Rosenzweig, M., MacVittie, T.J., Harper, D., Hempel, D., Glickman, R.L., Johnson, R.P., Farese, A.M., Whiting-Theobald, N., Linton, G.F., Yamasaki, G., Jordan, C.T. and Malech, H. (1999): Efficient and durable gene marking of hematopoietic progenitor cells in nonhuman primates after nonablative conditioning. Blood, 94:2271-2286.
35. Saulnier, S.O., Steinhoff, D., Dinauer, M.C., Zufferey, R., Trono, D., Seger, R.A. and Hossle, J.P. (2000): Lentivirus-mediated gene transfer of gp91phox corrects chronic granulomatous disease (CGD) phenotype in human X-CGD cells. J. Gene Med., 2:317-325.
36. Schambach, A., Bohne, J., Chandra, S., Will, E., Margison, G.P., Williams, D.A. and Baum, C. (2006): Equal potency of gammaretroviral and lentiviral SIN vectors for expression of O(6)-methylguanine-DNA methyl-transferase in hematopoietic cells. Mol. Ther., 13:391-400.
37. Schmidt, M., Zickler, P., Hoffmann, G., Haas, S., Wissler, M., Muessig, A., Tisdale, J.F., Kuramoto, K. andrews, R.G., Wu, T., Kiem, H.P., Dunbar, C.E. and v. Kalle, C. (2002): Polyclonal long-term repopulating stem cell clones in a primate model. Blood, 100:2737-2743.
38. Schmidt, M., Carbonaro, D.A., Speckmann, C., Wissler, M., Bohnsack, J., Elder, M., Aronow, B.J., Nolta, J.A., Kohn, D.B. and von Kalle, C. (2003): Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates. Nat. Med., 9:463-468.
39. Segal, A.W. (2005): How neutrophils kill microbes. Annu. Rev. Immunol., 23:197-223.
40. Seger, R.A., Gungor, T., Belohradsky, B.H., Blanche, S., Bordigoni, P., Di Bartolomeo, P., Flood, T., Landais, P., Muller, S., Ozsahin, H., Passwell, J.H., Porta, F., Slavin, S., Wulffraat, N., Zintl, F., Nagler, A., Cant, A. and Fischer, A. (2002): Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood, 100:4344-4350.
41. Strayer, D.S., Akkina, R., Bunnell, B.A., Dropulic, B., Planelles, V., Pomerantz, R.J., Rossi, J.J. and Zaia, J.A. (2005): Current status of gene therapy strategies to treat HIV/AIDS. Mol. Ther., 11:823-842.
42. Tiercy, J.M., Villard, J. and Roosnek, E. (2002): Selection of unrelated bone marrow donors by serology, molecular typing and cellular assays. Trans. Immunol., 10:215-221.
43. Tsuge, I., Makimura, K., Natsume, J., Kubota, T., Hasegawa, S., Kawabe, T., Nakashima, S., Aso, K., Negoro, T. and Watanabe, K. (1998): Successful polymerase chain reaction-based diagnosis of fungal meningitis in a patient with chronic granulomatous disease. Acta Paediatr. Jpn., 40:356-359.
44. Winkelstein, J.A., Marino, M.C., Johnston, R.B., Jr., Boyle, J., Curnutte, J., Gallin, J.I., Malech, H.L., Holland, S.M., Ochs, H., Quie, P., Buckley, R.H., Foster, C.B., Chanock, S.J. and Dickler, H. (2000): Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine, 79:155-169.
45. Woodman, R.C., Newburger, P.E., Anklesaria, P., Erickson, R.W., Rae, J., Cohen, M.S. and Curnutte, J.T. (1995): A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells. Blood, 85:231-241.
46. Wu, X., Li, Y., Crise, B. and Burgess, S.M. (2003): Transcription start regions in the human genome are favored targets for MLV integration. Science, 300:1749-1751.
47. Zhang, X., Araki, N. and Ito, K. (2001): Post-transfusion alloimmunization to granulocytes and platelets in Japanese patients as determined by the MPHA method. Transfus. Apher. Sci., 25:163-172.