Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy

Brain Pathology

Volumn 20, Issue 4, 2010, Pages 857-862

  Cartier, Nathalie ^a   Aubourg, Patrick ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Gene therapy; Hematopoietic stem cell; Lentiviral vector; Microglia

Indexed keywords

ABC TRANSPORTER; ANTIOXIDANT; BIOLOGICAL MARKER; BUSULFAN; CYCLOPHOSPHAMIDE; GLUCOSYLCERAMIDASE; HLA ANTIGEN; LENTIVIRUS VECTOR; PROTEIN ALD; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

ADDISON DISEASE; ADRENOLEUKODYSTROPHY; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; BLOOD BRAIN BARRIER; BRAIN; CHILDHOOD ADRENOLEUKODYSTROPHY; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; COGNITIVE DEFECT; CONFERENCE PAPER; DEMYELINATION; DISEASE COURSE; DRUG EFFICACY; GRAFT FAILURE; HEMATOPOIETIC STEM CELL GENE THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HLA MATCHING; HUMAN; MYELOABLATIVE CONDITIONING; NEUROLOGIC EXAMINATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT SAFETY; REDUCED INTENSITY CONDITIONING; RETROVIRUS; RISK FACTOR; STEM CELL GENE THERAPY; TREATMENT DURATION; TREATMENT OUTCOME; X CHROMOSOME LINKED DISORDER; ADOLESCENT; GENE THERAPY; HEMATOPOIETIC STEM CELL; MALE;

ADOLESCENT; ADRENOLEUKODYSTROPHY; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMATOPOIETIC STEM CELLS; HUMANS; MALE; TREATMENT OUTCOME;

EID: 77953218324     PISSN: 10156305     EISSN: 17503639     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2010.00394.x     Document Type: Conference Paper

References (49)

1. Aiuti A, Vai S, Mortellaro A, Casorati G, Ficara F, Andolfi G et al (2002) Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med 8 : 423 425.
2. Ajami B, Bennett JL, Krieger C, Tetzlaff W, Rossi FM (2007) Local self-renewal can sustain CNS microglia maintenance and function throughout adult life. Nat Neurosci 10 : 1538 1543.
3. Asheuer M, Pflumio F, Benhamida S, Dubart-Kupperschmitt A, Fouquet F, Imai Y et al (2004) Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein. Proc Natl Acad Sci U S A 101 : 3557 3562.
4. Aubourg P, Blanche S, Jambaqué I, Rocchiccioli F, Kalifa G, Naud-Saudreau C et al (1990) Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322 : 1860 1866.
5. Baumann M, Korenke GC, Weddige-Diedrichs A, Wilichowski E, Hunneman DH, Wilken B et al (2003) Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy. Eur J Pediatr 162 : 6 14.
6. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, Gross F, Yvon E, Nusbaum P et al (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288 : 669 672. (Pubitemid 30241569)
7. Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V et al (2007) Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy. Biol Blood Marrow Transplant 13 : 665 674. (Pubitemid 46767994)
8. Benhamida S, Pflumio F, Dubart-Kupperschmitt A, Zhao-Emonet JC, Cavazzana-Calvo M, Rocchiccioli F et al (2003) Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice. Mol Ther 7 : 317 324.
9. Borker A, Yu LC (2002) Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34+ stem cell selection. Metab Brain Dis 17 : 139 144.
10. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I et al (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326 : 818 823.
11. Cheng FW, Lee V, To KF, Chan KC, Shing MK, Li CK (2009) Post-transplant EBV-related lymphoproliferative disorder complicating umbilical cord blood transplantation in patients of adrenoleukodystrophy. Pediatr Blood Cancer 53 : 1329 1331.
12. Davoust N, Vuaillat C, Androdias G, Nataf S (2008) From bone marrow to microglia: barriers and avenues. Trends Immunol 29 : 227 234.
13. De Palma M, Montini E, Santoni de Sio FR, Benedicenti F, Gentile A, Medico E, Naldini L (2005) Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells. Blood 105 : 2307 2315.
14. Eglitis MA, Mezey E (1997) Hematopoietic cells differentiate into both microglia and macroglia in the brains of adult mice. Proc Natl Acad Sci U S A 94 : 4080 4085.
15. Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB et al (2008) Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol 63 : 729 742.
16. Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J et al (2004) Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364 : 2181 2187.
17. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, McCormack MP, Wulffraat N, Leboulch P et al (2003) LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302 : 415 419.
18. Hacein-Bey-Abina S, Garrigue A, Wang GP, Soulier J, Lim A, Morillon E et al (2008) Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 118 : 3132 3142.
19. Hitomi T, Mezaki T, Tomimoto H, Ikeda A, Shimohama S, Okazaki T et al (2005) Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy. Eur J Neurol 12 : 807 810.
20. Hobbs JR, Hugh-Jones K, Barrett AJ, Byron N, Chambers D, Henry K et al (1981) Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 2 : 709 712.
21. Hwang WY, Samuel M, Tan D, Koh LP, Lim W, Linn YC (2007) A meta-analysis of unrelated donor umbilical cord blood transplantation versus unrelated donor bone marrow transplantation in adult and pediatric patients. Biol Blood Marrow Transplant 13 : 444 453.
22. Kapelushnik J, Varadi G, Nagler A (1998) Matched unrelated human umbilical cord blood transplantation for X-linked adrenoleukodystrophy. J Pediatr Hematol Oncol 20 : 257 259.
23. Kennedy DW, Abkowitz JL (1997) Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood 9 : 986 993.
24. Ko̧ ON, Peters C, Aubourg P, Raghavan S, Dyhouse S, DeGasperi R et al (1999) Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exp Hematol 27 : 1675 1678.
25. Krall WJ, Challita PM, Perlmutter LS, Skelton DC, Kohn DB (1994) Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 83 : 2737 2748.
26. Krivit W, Aubourg P, Shapiro E, Peters C (1999) Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol 6 : 377 382.
27. Lange MC, Teive HA, Troiano AR, Bitencourt M, Funke VA, Setúbal DC et al (2006) Bone marrow transplantation in patients with storage diseases: a developing country experience. Arq Neuropsiquiatr 64 : 1 4.
28. Lawson LJ, Perry VH, Dri P, Gordon S (1990) Heterogeneity in the distribution and morphology of microglia in the normal adult mouse brain. Neuroscience 39 : 151 170.
29. Lawson LJ, Perry VH, Gordon S (1992) Turnover of resident microglia in the normal adult mouse brain. Neuroscience 48 : 405 415.
30. Li CK, Shing MM, Chik KW, Tsang KS, Tang NL, Chan PK et al (2004) Unrelated umbilical cord blood transplantation in children: experience of the Hong Kong Red Cross Blood Transfusion Service. Hong Kong Med J 10 : 89 95.
31. Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW (2007) Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol 6 : 687 692.
32. Malm G, Ringdén O, Anvret M, von Döbeln U, Hagenfeldt L, Isberg B et al (1997) Treatment of adrenoleukodystrophy with bone marrow transplantation. Acta Paediatr 86 : 484 492.
33. Massberg S, Schaerli P, Knezevic-Maramica I, Köllnberger M, Tubo N, Moseman EA et al (2007) Immunosurveillance by hematopoietic progenitor cells trafficking through blood, lymph, and peripheral tissues. Cell 131 : 994 1008.
34. Mildner A, Schmidt H, Nitsche M, Merkler D, Hanisch UK, Mack M et al (2007) Microglia in the adult brain arise from Ly-6ChiCCR2+ monocytes only under defined host conditions. Nat Neurosci 10 : 1544 1553.
35. Mildner A, Mack M, Schmidt H, Brück W, Djukic M, Zabel MD et al (2009) CCR2 + Ly-6Chi monocytes are crucial for the effector phase of autoimmunity in the central nervous system. Brain 132 : 2487 2500.
36. Miyoshi H, Smith KA, Mosier DE, Verma IM, Torbett BE (1999) Transduction of human CD34+ cells that mediate long-term engraftment of NOD/SCID mice by HIV vectors. Science 283 : 682 686.
37. Moser HW, Tutschka PJ, Brown FR 3rd., Moser AE, Yeager AM, Singh I et al (1984) Bone marrow transplant in adrenoleukodystrophy. Neurology 34 : 1410 1417.
38. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H et al (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361 : 726 730.
39. Naldini L, Blomer U, Gallay P, Ory D, Mulligan R, Gage FH et al (1996) In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 272 : 263 267.
40. Nowaczyk MJ, Saunders EF, Tein I, Blaser SI, Clarke JT (1997) Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy. J Pediatr 131 : 453 455.
41. Okamura K, Watanabe T, Onishi T, Watanabe H, Fujii E, Mori K, Matsuda J (2009) Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy. Pediatr Transplant 13 : 130 133.
42. Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T et al (2004) Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104 : 881 888.
43. Perry VH, Gordon S (1991) Macrophages and the nervous system. Int Rev Cytol 125 : 203 244.
44. Priller J, Flugel A, Wehner T, Boentert M, Haas CA, Prinz M et al (2001) Targeting gene-modified hematopoietic cells to the central nervous system: use of green fluorescent protein uncovers microglial engraftment. Nat Med 7 : 1356 1361.
45. Resnick IB, Abdul Hai A, Shapira MY, Bitan M, Hershkovitz E, Schwartz A et al (2005) Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen. Clin Transplant 19 : 840 847.
46. Shapiro EG, Lockman LA, Balthazor M, Krivit W (1995) Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 18 : 413 429.
47. Shapiro E, Krivit W, Lockman L, Jambaqué I, Peters C, Cowan M et al (2000) Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 356 : 713 718.
48. Tolar J, Orchard PJ, Bjoraker KJ, Ziegler RS, Shapiro EG, Charnas L (2007) N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy. Bone Marrow Transplant 39 : 211 215.
49. Tsirigotis P, Shapira MY, Or R, Bitan M, Samuel S, Gesundheit B et al (2009) The number of infused CD34+ cells does not influence the incidence of GVHD or the outcome of allogeneic PBSC transplantation, using reduced-intensity conditioning and antithymocyte globulin. Bone Marrow Transplant [Epub ahead of print; doi: 10.1038/bmt.2009.331].