Therapy for the mucopolysaccharidoses

Rheumatology

Volumn 50, Issue SUPPL. 5, 2011, Pages

  Valayannopoulos, Vassili ^a   Wijburg, Frits A ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Enzyme replacement therapy; Galsulfase.; Haematopoietic stem cell transplantation; Idursulfase; Laronidase; Mucopolysaccharidosis type I; Mucopolysaccharidosis type II; Mucopolysaccharidosis type III; Mucopolysaccharidosis type IV; Mucopolysaccharidosis type VI

Indexed keywords

GALSULFASE; GENTAMICIN; IDURONATE 2 SULFATASE; LARONIDASE;

ARTICLE; BONE MARROW TRANSPLANTATION; BREATHING; CARPAL TUNNEL SYNDROME; COGNITION; DECOMPRESSION SURGERY; ENZYME REPLACEMENT; FOLLOW UP; GENE THERAPY; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; IMMUNOLOGICAL TOLERANCE; MAROTEAUX LAMY SYNDROME; MORBIDITY; MORQUIO SYNDROME; MORTALITY; MUCOPOLYSACCHARIDOSIS; MUCOPOLYSACCHARIDOSIS TYPE 7; ORTHOPEDIC SURGERY; PATHOPHYSIOLOGY; PATIENT CARE; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); SCHEIE SYNDROME; SURVIVAL;

CLINICAL TRIALS AS TOPIC; ENZYME REPLACEMENT THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IDURONATE SULFATASE; IDURONIDASE; MUCOPOLYSACCHARIDOSES; N-ACETYLGALACTOSAMINE-4-SULFATASE; RECOMBINANT PROTEINS;

EID: 84855575334     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/ker396     Document Type: Article

References (83)

1. Piraud M, Boyer S, Mathieu M et al. Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples. Clin Chim Acta 1993; 221:171-81.
2. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W et al., eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, 2001:3421-52.
3. McGill JJ, Inwood AC, Coman DJ et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin Genet 2009; 77:492-8.
4. Wang RY, Cambray-Forker EJ, Ohanian K et al. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab 2009; 98: 406-11.
5. Gabrielli O, Clarke LA, Bruni S et al. Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics 2010; 125:e183-7.
6. Tylki-Szymanska A, Jurecka A, Zuber Z et al. Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: 3-year follow-up. Acta Paediatr 2011 Advance Acess published 14 June 2011, doi:10.1111/j.1651-2227.02385.x.
7. Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin Hematol 2010; 47:59-69.
8. Peters C, Balthazor M, Shapiro EG et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996; 87:4894-902.
9. Peters C, Shapiro EG, Anderson J et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998; 91:2601-8.
10. Khanna G, Van Heest AE, Agel J et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant 2007; 39:331-4.
11. Muenzer J, Beck M, Eng CM et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009; 124: e1228-39.
12. Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009; 123:19-29.
13. Valayannopoulos V, Nicely H, Harmatz P et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010; 5:5.
14. Walker R, Darowski M, Morris P et al. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 1994; 49:1078-84.
15. Buckley BM. Clinical trials of orphan medicines. Lancet 2008; 371:2051-5.
16. Pastores G, Arn P, Beck M et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91:37-47.
17. Clarke L, Wraith JE, Beck M et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009; 123:229-40.
18. Giugliani R, Muñoz Rojas V, Martins A et al. A dose-optimization trial of laronidase (Aldurazyme®) in patients with mucopolysaccharidosis I. Mol Genet Metab 2009; 96:13-9.
19. Kakkis ED, Muenzer J, Tiller GE et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344:182-8.
20. Wraith JE, Beck M, Lane R et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-L-iduronidase (laronidase). Pediatrics 2007; 120:e37-46.
21. 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 alpha-L-iduronidase (laronidase). J Pediatr 2004; 144:581-8.
22. Okuyama T, Tanaka A, Suzuki Y et al. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab 2010; 99:18-25.
23. Muenzer J, Gucsavas-Calikoglu M, McCandless SE et al. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007; 90:329-37.
24. Muenzer J, Wraith JE, Beck M et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8:465-73.
25. Muenzer J, Beck M, Eng CM et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011; 13: 95-101.
26. Muenzer J, Beck M, Giugliani R et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med 2011; 13:102-9.
27. Harmatz P, Giugliani R, Schwartz I et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, 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; 148:533-9.
28. Harmatz P, Giugliani R, Schwartz IV et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 2008; 94:469-75.
29. Harmatz P, Ketteridge D, Giugliani R et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115:e681-9.
30. Harmatz P, Kramer WG, Hopwood JJ et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl 2005; 94:61-8; discussion 57.
31. Harmatz P, Whitley CB, Waber L et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004; 144:574-80.
32. Harmatz P, Yu ZF, Giugliani R et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis 2010; 33:51-60.
33. Decker C, Yu ZF, Giugliani R et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010; 3:89-100.
34. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007; 120: 405-18.
35. Hobbs JR, Hugh-Jones K, Barrett AJ et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981; 2:709-12.
36. Staba SL, Escolar ML, Poe M et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004; 350:1960-9.
37. Boelens JJ, Rocha V, Aldenhoven M et al. Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome. Biol Blood Marrow Transplant 2009; 15:618-25.
38. Cox GF, Harris W, Harkins K et al. International patient survey demonstrates treatment satisfaction for mucopolysaccharidosis I. Mol Genet Metab 2009; 96:S19 (abstract 32).
39. Moore D, Connock MJ, Wraith E et al. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis 2008; 3:24.
40. Peters C, Shapiro EG, Krivit W. Hurler syndrome: past, present, and future. J Pediatr 1998; 133:7-9.
41. Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant 2008; 14:485-98.
42. Guffon N, Bertrand Y, Forest I et al. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr 2009; 154:733-7.
43. Lee V, Li CK, Shing MM et al. Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Bone Marrow Transplant 2000; 26:455-8.
44. Martin R, Beck M, Eng C et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008; 121:e377-86.
45. Yamada Y, Kato K, Sukegawa K et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant 1998; 21:629-34.
46. Valstar MJ, Ruijter GJ, van Diggelen OP et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008; 31: 240-52.
47. Cox-Brinkman J, Boelens JJ, Wraith JE et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 2006; 38: 17-21.
48. Grewal SS, Wynn R, Abdenur JE et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005; 7:143-6.
49. Soni S, Hente M, Breslin N et al. Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report. Pediatr Transplant 2007; 11:563-7.
50. Hirth A, Berg A, Greve G. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis 2007; 30:820.
51. Tolar J, Grewal SS, Bjoraker KJ et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 2008; 41:531-5.
52. Wynn R, Mercer J, Page J et al. Use of enzyme replacement therapy (laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in patients. J Pediatr 2009; 154:135-9.
53. Bijarnia S, Shaw P, Vimpani A et al. Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. J Paediatr Child Health 2009; 45: 469-72.
54. Mercimek-Mahmutoglu S, Reilly C, Human D et al. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World J Pediatr 2009; 5: 319-21.
55. Valayannopoulos V, de Blic J, Mahlaoui N et al. Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation. Pediatrics 2010; 126: e1242-7.
56. Heese BA. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol 2008; 15: 119-26.
57. Platt FM, Lachmann RH. Treating lysosomal storage disorders: current practice and future prospects. Biochim Biophys Acta 2009; 1793:737-45.
58. Fan JQ. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 2008; 389:1-11.
59. Jakobkiewicz-Banecka J, Wegrzyn A, Wegrzyn G. Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet 2007; 48:383-8.
60. Wegrzyn G, Jakobkiewicz-Banecka J, Gabig-Ciminska M et al. Genistein: a natural isoflavone with a potential for treatment of genetic diseases. Biochem Soc Trans 2010; 38:695-701.
61. Piotrowska E, Jakó bkiewicz-Banecka J, Tylki-Szymanska A et al. Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr Ther Res 2008; 69(2):166-79.
62. Nudelman I, Rebibo-Sabbah A, Cherniavsky M et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 2009; 52:2836-45.
63. Welch EM, Barton ER, Zhuo J et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447:87-91.
64. Peltz SW, Welch EM, Jacobson A et al. Nonsense suppression activity of PTC124 (ataluren). Proc Natl Acad Sci USA 2009; 106:E64; author reply E5.
65. Cox GF, Wraith JE, Whitley CB et al. Genotype frequencies in the MPS I Registry. Mol Genet Metab 2009; 96:S19 (abstract 31).
66. Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med 2003; 5:286-94.
67. Cartier N, Aubourg P. Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. Curr Opin Mol Ther 2008; 10: 471-8.
68. Ciron C, Cressant A, Roux F et al. Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution. Hum Gene Ther 2009; 20:350-60.
69. Herati RS, Knox VW, O'Donnell P et al. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab 2008; 95:142-51.
70. Munoz-Rojas MV, Vieira T, Costa R et al. Intrathecal enzyme replacement therapy in a patient with mucopolysacchasridosis type I and symptomatic spinal cord compression. Am J Med Genet A 2008; 146A: 2538-44.
71. Munoz-Rojas MV, Horovitz DD, Jardim LB et al. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 2010; 99:346-50.
72. Boado RJ, Hui EK, Lu JZ et al. AGT-181: expression in CHO cells and pharmacokinetics, safety, and plasma iduronidase enzyme activity in Rhesus monkeys. J Biotechnol 2009; 144:135-41.
73. Lin HY, Chen MR, Lin CC et al. Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol 2010; 45:1205-12.
74. Murphy AM, Lambert DM, Treacy EP et al. Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish Republic. Arch Dis Child 2009; 94:52-4.
75. Baehner F, Schmiedeskamp C, Krummenauer F et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005; 28:1011-7.
76. Sivakumur P, Wraith JE. Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis 1999; 22:849-50.
77. Vellodi A, Young E, New M et al. Bone marrow transplantation for Sanfilippo disease type B. J Inherit Metab Dis 1992; 15:911-8.
78. Valstar MJ, Ruijter GJ, van Diggelen OP et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008.
79. Bouzidi H, Khedhiri S, Laradi S et al. [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. Ann Biol Clin 2007; 65:5-11.
80. Natowicz MR, Prence EM. Heterozygote screening for Tay-Sachs disease: past successes and future challenges. Curr Opin Pediatr 1996; 8:625-9.
81. Kalkan Ucar S, Ozbaran B, Demiral N et al. Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev 2010; 32:156-61.
82. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child 1993; 69:403-6.
83. Sifuentes M, Doroshow R, Hoft R et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90:171-80.