The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I

Expert Opinion on Pharmacotherapy

Volumn 6, Issue 3, 2005, Pages 489-506

  Wraith, James Edward ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Aldurazyme; Clinical phenotype; Enzyme replacement therapy; Glycosaminoglycans; Hurler syndrome; Laronidase; Lysosomal storage disorder; MPS I; Mucopolysaccharidosis I; Recombinant human L iduronidase; Scheie syndrome

Indexed keywords

ANTIHISTAMINIC AGENT; ANTIPYRETIC AGENT; GLYCOSAMINOGLYCAN; LARONIDASE;

CELL DAMAGE; CHILL; CLINICAL PRACTICE; CLINICAL TRIAL; DAILY LIFE ACTIVITY; DEATH; DIAGNOSTIC VALUE; DISABILITY; DISEASE SEVERITY; DRUG EFFICACY; DRUG ERUPTION; DRUG HYPERSENSITIVITY; DRUG PENETRATION; DRUG SAFETY; DYSPNEA; EARLY DIAGNOSIS; ENZYME DEFICIENCY; ENZYME REPLACEMENT; EXPERIENCE; EYE DISEASE; FEVER; FLUSHING; HEADACHE; HEART DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HUMAN; HURLER SYNDROME; JOINT FUNCTION; LONG TERM CARE; LUNG FUNCTION; MUSCLE DISEASE; MUTATIONAL ANALYSIS; PHENOTYPE; QUESTIONNAIRE; RESPIRATORY TRACT INFECTION; REVIEW; SKIN MANIFESTATION; SLEEP APNEA SYNDROME; SYMPTOMATOLOGY; TISSUE INJURY; TRACHEOTOMY; URINARY EXCRETION;

CLINICAL TRIALS; GLYCOSAMINOGLYCANS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IDURONIDASE; MUCOPOLYSACCHARIDOSIS I; RECOMBINANT PROTEINS;

EID: 17144399564     PISSN: 14656566     EISSN: None     Source Type: Journal    
DOI: 10.1517/14656566.6.3.489     Document Type: Review

References (86)

1. WRAITH JE: Advances in the treatment of lysosomal storage disease. Dev. Med. Child. Neurol. (2001) 43:639-646.
2. BROOKS D: α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin. Biol. Ther. (2002) 2 967-976.
3. SIMONARO C, D'ANGELO M, HASKINS M, SCHUCHMAN E: Bone and joint disease in the mucopolysaccharidoses. Am. J. Hum. Genet. (2003) 73:449 (Abstract 1632).
4. KAKKIS E: Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin. Invest. Drugs (2002) 11:675-685.
5. NEUFELD EF, MUENZER J: The Mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet al, Sly WS, Valle D (Eds.) McGraw-Hill, New York, USA (2001):3421-3452.
6. 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) 5:286-294.
7. BEESLEY CE, MEANEY CA, GREENLAND GA et al.: Mutational analysis of 85 mucopolysaccharidosis Type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum. Genet. (2001) 109:503-511.
8. WILCOX WR: Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J. Pediatr. (2004) 144:S3-S14.
9. MUENZER J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J. Pediatr. (2004) 144:S27-S34.
10. WRAITH J, CLARKE L, BECK M et al.: Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase).J. Pediatr. (2004) 144:581-588.
11. OHMI K, GREENBERG DS, RAJAVEL KS, RYAZANTSEV S, LI HH, NEUFELD EF: Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc. Natl. Acad. Sci. USA (2003) 100:1902-1907.
12. RUSSELL C, HENDSON G, JEVON G, MATLOCK T, YU J, AKLUJKAR M et al.: Murine MPS I: insights into the pathogenesis of Hurler syndrome. Clin. Genet. (1998) 53:349-361.
13. HÉRON-LONGÉ BH, BAUMANN CB, MAINCENT K, MAGNIER SM, WICART PW, PONSOT GS: Marked improvement of leukodystrophy in a child with Huler-Scheie disease treated by enzyme replacement therapy. Annual Meeting of the American Society of human Genetics, Toronto, Canada (2004) Abstract 3038.
14. BARONE R, PARANO E, TRIFILETTI RR, FIUMARA A, PAVONE P: White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: Characterization by MRI. J. Neurol. Sci. (2002) 195:171-175.
15. MATHEUS MG, CASTILLO M, SMITH JK, ARMAO D, TOWLE D, MUENZER J: Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology (2004) 46 666-672.
16. WATTS RW, SPELLACY E, KENDALL BE, DU BOULAY G, GIBBS DA: Computed tomography studies on patients with mucopolysaccharidoses. Neuroradiology (1981) 21:9-23.
17. KACHUR E, DEL MAESTRO R: Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery (2000) 47:223-228.
18. VAN MEIR N, DE SMET L: Carpal tunnel syndrome in children. Acta Orthop. Belg. (2003) 69:387-395.
19. VAN HEEST AE, HOUSE J, KRIVIT W, WALKER K: Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. Journal of Hand Surgery (1998) 23:236-243.
20. VERRIPS A, VAN ENGELEN BG, TER LAAK H, WESSELING P, DE JONG J, GABREELS FJ. Scheie syndrome presenting as myopathy. Neuropediatrics (2001) 32:93-96.
21. SHINHAR S, ZABLOCKI H, MADGY D: Airway management in mucopolysaccharide storage disorders. Arch. Otolaryngol. Head Neck Surg. (2004) 130:233-237.
22. FARGE P, MILLE M, FOUILLHOUX A, COCHAT P, GUFFON N: Prospective oral health surveillance in patients with MPS disorders: Results from a 3-year follow-up study. J. Inherit. Metab. Dis. (2004) 27:175 Abstract 344-P.
23. LEIGHTON S, PAPSIN B, VELLODI A, DINWIDDIE R, LANE R: Disordered breathing during sleep in patients with mucopolysaccharidoses. Int. J. Pediatr. Otorhinolaryngol. (2001) 58:127-138.
24. MOHAN UR, HAY AA, CLEARY MA, WRAITH JE, PATEL RG: Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paed. (2002) 91:799-804.
25. FESSLOVA V, PARINI R, GRASSI A et al.: Cardiac involvement in paediatric patients with mucopolysaccharidosis at long term follow up. Annual Symposium on Lysosomal Storage Disorders, Madrid, Spain (2004) Abstract 35.
26. KARATASAKIS G: Cardiac involvement in mucopolysaccharidosis Type I: is there any role for enzyme replacement therapy? Annual Symposium on Lysosomal Storage Disorders, Madrid, Spain (2004) Abstract 37.
27. GILBERT-BARNESS E: Metabolic cardiomyopathy and conduction system defects in children. Ann. Clin. Lab. Sci. (2004) 34 15-34.
28. STEPHAN MJ, STEVENS EL, JR., WENSTRUP RJ et al.: Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. Am. J. Dis. Child. (1989) 143:782-784.
29. RUMMELT V, MEYER HJ, NAUMANN GO: Light and electron microscopy of the cornea in systemic mucopolysaccharidosis Type I-S (Scheie's syndrome). Cornea (1992) 11:86-92.
30. POLL-THE B, MAILLETTE DE BUY WENNIGER-PRICK L, BARTH P, DURAN M: The eye as a window to inborn errors of metabolism. J. Inherit. Metab. Dis. (2003) 26:229-244.
31. SUMMERS CG, WHITLEY CB, HOLLAND EJ, PURPLE RL, KRIVIT W: Dense peripheral corneal clouding in Scheie syndrome. Cornea (1994) 13:277-279.
32. MULLANEY P, AWAD AH, MILLAR L: Glaucoma in mucopolysaccharidosis 1-H/S. J. Pediatr. Ophthalmol. Strabismus (1996) 33:127-131.
33. COLLINS ML, TRABOULSI EI, MAUMENEE IH: Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology (1990) 97:1445-1449.
34. ASHWORTH J: Ophthalmological features of the mucopolysaccharidoses; the Manchester experience. Annual Symposium on Lysosomal Storage Disorders, Madrid, Spain (2004) Abstract 34.
35. WEGRZYN G, KURLENDA J, LIBEREK A et al.: Untypical microbial infections of digestive tract may contribute to diarrhoea in mucopolysaccharidosis patients: a MPS I case study. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P19.
36. PAPSIN BC, VELLODI A, BAILEY CM, RATCLIFFE PC, LEIGHTON SE: Otologic and laryngologic manifestations of mucopolysaccharidoses after bone marrow transplantation. Otolaryngol. Head Neck Surg. (1998) 118:30-36.
37. COHEN SA: The important role of pediatricians in recognizing clusters of symptoms in patients with Mucopolysaccharidosis I. National Conference of the American Academy of Pediatrics, San Francisco, USA (2004).
38. VIJAY S, WRAITH JE: The attenuated ('non-Hurler') phenotype of mucopolysaccharidosis: A review of the clinical features in 29 patients. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P21.
39. CLEARY MA, WRAITH JE: The presenting features of mucopolysaccharidosis Type IH (Hurler syndrome). Acta Paediatr. (1995) 84:337-339.
40. GUFFON N: Challenges and delayed diagnosis in symptomatic MPS I patients: two case reports. 14th Meeting of the European Study Group of Lysosomal Disorders, Podebrady, Czech Republic (2003).
41. DEMBURE PP, DRUMHELLER JE, BARR SM, ELSAS LJ: Selective urinary screening for mucopolysaccharidoses. Clin. Biochem. (1990) 23:91-96.
42. HAASE C, BELLSTEDT K, MENTZEL H et al.: Problems of clinical and biochemical diagnosis in atypical Mucopolysaccharidosis 1- type Scheie (MPS1-S) affecting three siblings- a case report. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P22.
43. MAHALINGAM K, JANANI S, PRIYA S, ELANGO E, SUNDARI R: Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. Indian J. Pediatr. (2004) 71:29-32.
44. FUMIC K, PIRARD V: Role of general paediatricians and laboratory pitfalls in diagnosing mucopolysaccharidosis. 2nd European Congress in Paediatrics, Prague, Czech Republic (2003).
45. HALL CW, LIEBAERS I, DI NATALE P, NEUFELD EF: Enzymatic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol. (1978) 50:439-456.
46. BUNGE S, CLEMENTS PR, BYERS S et al.: Genotype-phenotype correlations in mucopolysaccharidosis Type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim. Biophys. Acta (1998) 1407:249-256.
47. ARONOVICH EL, PAN D, WHITLEY CB: Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. Am. J. Hum. Genet. (1996) 58:75-85.
48. CHAMOLES NA, BLANCO MB, GAGGIOLI D, CASENTINI C: Hurler-like Phenotype: Enzymatic diagnosis in dried blood spots on filter paper. Clin. Chem. (2001) 47:2098-2102.
49. MUEHL A, STOCKLER-IPIROGLU S, BODAMER O: α-L-iduronidase deficiency: Microplate adaption of an enzyme assay in dried blood spots suitable for newborn screening. J. Inherit. Metab. Dis. (2004) 27:175 Abstract 345-P.
50. MEIKLE P, HOPWOOD J: Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur. J. Pediatr. (2003) 162:S34-S37.
51. KAKKIS ED, MATYNIA A, JONAS AJ, NEUFELD EF: Overexpression of the human lysosomal enzyme α-L-iduronidase in Chinese hamster ovary cells. Protein Expr. Purif. (1994) 5:225-232.
52. TAYLOR JA, GIBSON GJ, BROOKS DA, HOPWOOD JJ: α-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts. Biochem. J. (1991) 274:263-268.
53. KAKKIS ED, MUENZER J, TILLER G et al.: Enzyme replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. (2001) 344:182-188.
54. MUENZER J, SWIEDLER S, COX G et al.: A five year study of Aldurazyme for treatment of MPS I. J. Inherit. Metab. Dis. (2004) 27:176 Abstract 346-O.
55. GENZYME CORPORATION: European Product Monograph Aldurazyme. Available from Genzyme Corporation upon request.
56. KAKAVANOS R, TURNER C, HOPWOOD J, KAKKIS E, BROOKS D: Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet (2003) 361:1608-1613.
57. YOGALINGAM G, GUO X, MULLER V et al.: Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis Type I patients undergoing enzyme replacement therapy. Hum. Mutat. (2004) 24:199-207.
58. CLARKE LA, MUENZER J, KOLODNY EH, PASTORES GM, BECK M, WRAITH JE: Safety profile of enzyme replacement therapy for MPS. J. Inherit. Metab. Dis. (2003) 26:137 Abstract 274-O.
59. CLARKE LA, WRAITH JE, BECK M, KOLODNY EH, PASTORES GM, MUENZER J: Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data. Mol. Genet. Metab. (2004) 81:169 Abstract 25.
60. PINTO-PLATA VM, COTE C, CABRAL H, TAYLOR J, CELLI BR: The 6-min walk distance: change over time and value as a predictor of survival in severe COPD. Eur. Respir. J. (2004) 23:28-33.
61. BAJBOUJ M, BECK M, WRAITH J et al.: Effects of Aldurazyme (laronidase) on joint mobility in MPS I. Am. J. Hum. Genet. (2003) 73:621 Abstract 2660.
62. COX G, GUFFON N, WRAITH J, WALTON-BOWEN K: Aldurazyme (laronidase) enzyme replacement therapy in MPS I: preliminary data in children less than 5 years of age. Mol. Genet. Metab. (2004) 81 170 Abstract 29.
63. GUFFON N: Baseline characteristics and initial results in five MPS I patients treated with Aldurazyme (laronidase). 14th Meeting of the European Study Group of Lysosomal Disorders, Podebrady, Czech Republic (2003).
64. TYLKI-SZYMANSKA A, CZARTORYSKA B, LUGOWSKA A, JURECKA A, MIKOLAJCZAK M, HARMAK E: Baseline characteristics and enzyme replacement therapy (ERT) with Aldurazyme outcomes in 6 MPS I Polish patients. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P35.
65. DE MEIRLEIR L, BENATAR A, LISSENS W: Enzyme replacement in two patients with MPS1. J. Inherit. Metab. Dis. (2004) 27:177 Abstract 348-A.
66. BRUNI S, SALVATORI P, RADICE M, COPPA G: Disease progression in Scheie syndrome: case report. Mol. Genet. Metab. (2004) 81 168 Abstract 22.
67. VALAYANNOPOULOS V, DEBRÉ M, CORMIER-DAIRE V et al.: Follow up of two MPS I patients treated with laronidase. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P40.
68. KAITILA I: Observations on a 24-year-old female with attenuated MPS I treated with alpha-L-iduronidase for 18 months. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P41.
69. ALMÀSSY Z, VAS T, CZINNER A: First experiences with ERT in MPS I in Hungary. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P38.
70. GABRIELLI O, BRUNI S, BALDONI I et al.: One year of age, seven months of α-1-iduronidase therapy: case report. 3rd International Conference on Prospects in the Treatment of Rare Diseases Trieste, Italy (2004).
71. CUK M, FUMIC K, MARADIN M et al.: Mucopolysaccharidosis Type 1: First experiences with enzyme replacement therapy (ERT) in Croatia. 8th International Symposium on mucopolysaccharide and related diseases, Mainz, Germany (2004) Abstract P37.
72. BARISIC I, HUZJAK N, PETKOVIC G, TOKIC V, FUMIC K, MRSIC M: Enzyme replacement therapy in two patients with mucopolysaccharidosis Type 1. J. Inherit. Metab. Dis. (2004) 27:177 Abstract 349-A.
73. PITZ S, BAJBOUJ M, MIEBACH E, BECK M: Ocular findings in MPS I under enzyme replacement therapy. International Symposium on Lysosomal Storage Diseases, Seville, Spain (2004) Abstract H1.
74. GARCIA P, AMARAL O, CASEIRO C, DIOGO L, SA MIRANDA M: MPS-I enzyme replacement therapy with Aldurazyme in Portugal-First five patients: Baseline character and treatment outcome. J. Inherit. Metab. Dis. (2004) 27:176 Abstract 347-P.
75. WIJBURG F: Aldurazyme treatment in a non-neuronopathic MPS 1 patient: First experience in the Netherlands. International Symposium on Clinical Management of MPS I, Naples, Italy (2003).
76. CHAKRAPANI A, MOTWANI J, WRIGHT J et al.: MPSI (Hurler syndrome): Enzyme replacement therapy prior to bone marrow transplantation. J. Inherit. Metab. Dis. (2004) 27:178 Abstract 350-P.
77. PETERS C, STEWARD C: Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant (2003) 31:229-239.
78. STABA S, ESCOLAR M, POE M et al.: Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. (2004) 350:1960-1969.
79. SOUILLET G, GUFFON N, MAIRE I et al.: Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant (2003) 31:1105-1117.
80. MUENZER J, WRAITH J: Treatment and management guidelines for MPS I. J. Inherit. Metab. Dis. (2003) 26:144 Abstract 287-O.
81. SHAPIRO EG, LOCKMAN LA, BALTHAZOR M, KRIVIT W: Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis. (1995) 18 413-429.
82. GREWAL S, SHAPIRO E, CHARNAS L et al.: Enzyme replacement therapy (ERT) in combination with hematopoietic stem cell transplantation (HSCT) for Hurler patients. Annual World Symposium on Lysosomal Storage Diseases, Minneapolis, USA (2004).
83. ABDENUR J, YOUNG G, ZADEH T, JONES K, NUGENT D: Combined enzyme replacement treatment and bone marrow transplant for MPS I. Mol. Genet. Metab. (2004) 81:166 Abstract 15.
84. HERSH J: The role of enzyme replacement therapy in the management of Hurler's syndrome. Annual Meeting of the American Society of Human Genetics, Toronto, Canada (2004) Abstract 3039.
85. GUFFON N: Can enzyme replacement therapy for MPS I boost clinical outcome after hematopoietic stem cell transplantation? J. Inherit. Metab. Dis. (2004) 27:178 Abstract 351-P.
86. DUMAS HM, FRAGALA MA, HALEY SM, SKRINAR AM, WRAITH JE, COX GF: Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr. Rehabil. (2004) 7:125-131.