alpha-L-iduronidase therapy for mucopolysaccharidosis type I.
More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler syndrome) have been treated with hematopoietic cell transplantation (HCT) throughout the world since the introduction of transplantation as therapy almost 30 years ago. More recently, the availability of recombinant alpha-L-iduronidase (IDUA) has resulted in the widespread treatment of less severe forms of MPS I with enzyme replacement therapy (ERT). In addition, over 50 MPS IH patients have been treated with a combination of ERT and HCT. The rationale for both ERT and HCT stems from the pivotal experiments performed 4 decades ago that showed alpha-L-iduronidase supplied in the environment can correct the accumulation of substrate in MPS I cells. Our purpose is to address the multiple applications associated with the therapeutic delivery of IDUA: intermittent delivery of recombinant protein (ERT), continuous administration through cellular therapy (HCT), the use of other stem cells or, potentially, correction of the enzyme defect itself through gene therapy approaches. Even though gene therapy and non-hematopoietic stem cell approaches, have yet to be tested in a clinical setting, it is possible that all these approaches will in the near future be a part of a paradigm shift from unimodal to multimodal therapy for MPS I.
Tolar
Jakub
J
Division of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Orchard
Paul J
PJ
Hum Mutat. 1995;6(4):288-302
8680403
Mol Genet Metab. 2000 Apr;69(4):277-85
10870845
Radiology. 1985 Mar;154(3):665-6
3918332
J Inherit Metab Dis. 2007 Oct;30(5):820
17768668
Blood. 1996 Jul 1;88(1):377-9
8704199
Biochem J. 1994 Nov 15;304 ( Pt 1):43-9
7998955
Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):829-34
14715900
J Biol Chem. 1980 May 25;255(10):4946-50
6989822
Blood. 2003 Mar 15;101(6):2099-114
12511419
Bone Marrow Transplant. 2002 Aug;30(4):215-22
12203137
Mol Genet Metab. 2002 Sep-Oct;77(1-2):127-35
12359140
J Pediatr. 2004 May;144(5):581-8
15126990
Proc Natl Acad Sci U S A. 1968 Jun;60(2):699-706
4236091
Bone Marrow Transplant. 2008 Mar;41(6):531-5
18037941
Blood. 1998 Apr 1;91(7):2601-8
9516162
Science. 1968 Nov 1;162(3853):570-2
4236721
Clin Pharmacol Ther. 2007 Sep;82(3):241-3
17700588
J Am Soc Nephrol. 2006 Aug;17(8):2202-12
16790513
Mol Ther. 2007 Aug;15(8):1423-31
17519893
Bone Marrow Transplant. 2007 Aug;40(3):225-33
17529997
Biochem Mol Med. 1996 Aug;58(2):156-67
8812735
Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12937-41
7809150
Cell Transplant. 1995 Jul-Aug;4(4):385-92
7582569
Exp Hematol. 2006 Oct;34(10):1413-9
16982334
J Biol Chem. 1980 Oct 25;255(20):9608-15
6253448
Am J Hum Genet. 1993 Nov;53(5):973-86
8213840
Bone Marrow Transplant. 2006 Jul;38(1):17-21
16715104
Mol Genet Metab. 2007 May;91(1):37-47
17336562
Pediatrics. 2007 Jul;120(1):e37-46
17606547
J Hum Genet. 2008;53(5):467-474
18340403
Am J Med Genet. 1985 Mar;20(3):471-81
3922223
Blood. 1997 Aug 1;90(3):986-93
9242527
Mol Ther. 2005 Jan;11(1):35-47
15585404
Pediatr Transplant. 1998 Nov;2(4):250-3
10084724
Pediatr Radiol. 1987;17(5):409-14
3114705
Mol Genet Metab. 2007 May;91(1):61-8
17321776
J Pediatr Orthop. 1996 Nov-Dec;16(6):731-3
8906643
Pediatr Res. 2006 Jan;59(1):27-32
16326988
Protein Expr Purif. 1994 Jun;5(3):225-32
7950365
Semin Hematol. 2004 Oct;41(4):303-18
15508116
Bone Marrow Transplant. 2007 Mar;39(6):331-4
17277793
Biol Blood Marrow Transplant. 2005 May;11(5):321-34
15846285
J Inherit Metab Dis. 1995;18(4):413-29
7494400
Bone Marrow Transplant. 2008 Jun;41(12):1005-11
18278070
Eur J Pediatr. 1998 Jul;157(7):534-8
9686810
N Engl J Med. 2001 Jan 18;344(3):182-8
11172140
Mol Ther. 2007 May;15(5):889-902
17311010
Bone Marrow Transplant. 2003 Jun;31(12):1105-17
12796790
Surg Neurol. 1982 Jun;17(6):404-10
6810485
Mol Genet Metab. 2007 Feb;90(2):181-92
16979922
Bone Marrow Transplant. 2003 Jul;32(2):213-5
12838287
Lancet. 2004 May 1;363(9419):1439-41
15121408
Clin Genet. 1998 May;53(5):349-61
9660052
J Gene Med. 2004 May;6(5):481-506
15133760
NeuroRx. 2005 Jan;2(1):1-2
15717052
Blood. 2007 Apr 15;109(8):3147-51
17170129
N Engl J Med. 2004 May 6;350(19):1960-9
15128896
J Pediatr Orthop. 1999 Mar-Apr;19(2):270-4
10088702
Bone Marrow Transplant. 2008 Feb;41(4):349-53
18026148
Gene Ther. 2006 Jun;13(11):917-25
16482204
J Pediatr. 1998 Jul;133(1):7-9
9672503
Mol Genet Metab. 2007 Feb;90(2):171-80
17011223
Expert Opin Biol Ther. 2007 Sep;7(9):1333-45
17727324
J Thromb Haemost. 2008 May;6(5):893-5
18315551
Mol Genet Metab. 2001 Mar;72(3):199-208
11243725
Haematologica. 2005 Apr;90(4):438
15820935
NeuroRx. 2005 Jan;2(1):3-14
15717053
Mol Ther. 2004 Jun;9(6):866-75
15194053
Mol Genet Metab. 2005 May;85(1):28-37
15862278
Pediatr Cardiol. 1992 Apr;13(2):107-9
1614914
J Pediatr Orthop. 2008 Mar;28(2):163-8
18388709
Blood. 2005 Feb 15;105(4):1815-22
15494428
N Engl J Med. 2003 Jan 16;348(3):255-6
12529469
J Biol Chem. 1984 Mar 10;259(5):3132-40
6421818
N Engl J Med. 2004 Jun 10;350(24):2526-7; author reply 2526-7
15190153
Mol Cell Biol. 2003 Dec;23(24):9003-13
14645513
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1902-7
12576554
Am J Cardiol. 1976 Oct;38(4):487-501
823811
Arch Dis Child. 1997 Feb;76(2):92-9
9068295
Mol Biotechnol. 2005 May;30(1):57-70
15805577
Genet Med. 2005 Feb;7(2):143-6
15714083
FASEB J. 2006 Jan;20(1):9-22
16394262
Bone Marrow Transplant. 2002 Mar;29(6):491-6
11960268
J Pediatr. 2007 Oct;151(4):340-6
17889065
JAMA. 1999 Jan 20;281(3):249-54
9918480
Hum Gene Ther. 2005 Jan;16(1):81-90
15703491
Hum Mol Genet. 1997 Apr;6(4):503-11
9097952
Annu Rev Biochem. 1991;60:257-80
1883197
Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048-51
4262258
Mol Ther. 2008 Aug;16(8):1459-66
18523448
Mol Genet Metab. 2004 Sep-Oct;83(1-2):163-74
15464431
J Pediatr. 2008 May;152(5):723-7
18410781
Blood. 1996 Jun 1;87(11):4894-902
8639864
J Pediatr Orthop. 2004 Jan-Feb;24(1):97-101
14676543
Lancet. 1981 Oct 3;2(8249):709-12
6116856
PLoS Genet. 2006 Sep 29;2(9):e133
17009872
Hum Gene Ther. 1999 Jun 10;10(9):1521-32
10395377
Curr Opin Neurol. 1999 Apr;12(2):167-76
10226749
Science. 2003 Oct 17;302(5644):415-9
14564000
J Bone Joint Surg Br. 1994 Nov;76(6):975-81
7983131
Dev Med Child Neurol. 1973 Apr;15(2):194-9
4266829
Hum Mutat. 1992;1(4):333-9
1301941
Lancet. 2003 May 10;361(9369):1608-13
12747881
Mol Ther. 2005 May;11(5):776-89
15851016
Mol Genet Metab. 2003 Aug;79(4):233-44
12948739
Am J Cardiol. 2003 Oct 1;92(7):882-6
14516901
J Med Genet. 1997 Nov;34(11):939-41
9391892
Clin Genet. 1999 Jul;56(1):66-70
10466419
J Inherit Metab Dis. 2001 Apr;24(2):245-50
11405343