Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1851-1857

  Valayannopoulos, Vassili ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876878259     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00055-1     Document Type: Chapter

References (37)

1. Banugaria S.G., Prater S.N., Ng Y.K., et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med 2011, 13:729-736.
2. Begley D.J., Pontikis C.C., Scarpa M. Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des 2008, 14:1566-1580.
3. Boelens J.J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 2006, 29:413-420.
4. Clarke L.A., Wraith J.E., Beck M., et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009, 123:229-240.
5. Clavelou P., Besson G., Elziere C., et al. Neurological aspects of Fabry disease. Rev Neurol (Paris) 2006, 162:569-580.
6. Dickson P., McEntee M., Vogler C., et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab 2007, 91:61-68.
7. Erikson A., Bembi B., Schiffmann R. Neuronopathic forms of Gaucher's disease. Baillières Clin Haematol 1997, 10:711-723.
8. Fellgiebel A., Keller I., Marin D., et al. Diagnostic utility of different MRI and MR angiography measures in Fabry's disease. Neurology 2009, 72:63-68.
9. Gonzalez D.E., Turkia H.B., Lukina E.A., et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol 2013, 88:166-171.
10. Heese B.A. New prospects for the treatment of lysosomal storage diseases. Drugs 2002, 62:733-742.
11. Heese B.A. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol 2008, 15:119-126.
12. Hoffmann B., Mayatepek E. Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics 2005, 36:285-289.
13. Hruska K.S., LaMarca M.E., Scott C.R., et al. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008, 29:567-583.
14. Katzin L.W., Amato A.A. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J Clin Neuromuscul Dis 2008, 9:421-431.
15. Kishnani P.S., Corzo D., Leslie N.D., et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res 2009, 66:329-335.
16. Kishnani P.S., Beckemeyer A.A., Mendelsohn N.J. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet C Semin Med Genet 2012, 160:1-7.
17. Martins A.M., Valadares E.R., Porta G., et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009, 155:S10-S18.
18. Moore D.F., Altarescu G., Ling G.S., et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002, 33:525-531.
19. Moore D.F., Kaneski C.R., Askari H., et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007, 257:258-263.
20. Munoz-Rojas M.V., Vieira T., Costa R., et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A 2008, 146A:2538-2544.
21. Nicolino M., Byrne B., Wraith J.E., et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009, 11:210-219.
22. Patterson M.C., Vecchio D., Prady H., et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007, 6:765-772.
23. Patterson M.C., Vecchio D., Jacklin E., et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol 2010, 25:300-305.
24. Pineda M., Wraith J.E., Mengel E., et al. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009, 98:243-249.
25. Roubicek M., Gehler J., Spranger J. The clinical spectrum of alpha-L-iduronidase deficiency. Am J Med Genet 1985, 20:471-481.
26. Schaefer R.M., Tylki-Szymanska A., Hilz M.J. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009, 69:2179-2205.
27. Schiffmann R., Fitzgibbon E.J., Harris C., et al. Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 2008, 64:514-522.
28. Suzuki Y., Ogawa S., Sakakibara Y. Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities. Perspect Medicin Chem 2009, 3:7-19.
29. Tolar J., Grewal S.S., Bjoraker K.J., et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 2008, 41:531-535.
30. Toscano A., Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 2012, [Epub ahead of print].
31. Van den Hout J.M., Kamphoven J.H., Winkel L.P., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004, 113:e448-e457.
32. Vellodi A., Tylki-Szymanska A., Davies E.H., et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009, 32:660-664.
33. Wokke J.H., Escolar D.M., Pestronk A., et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008, 38:1236-1245.
34. Wraith J.E. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatr Suppl 2008, 97:76-78.
35. Wraith J.E., Scarpa M., Beck M., et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008, 167:267-277.
36. Zervas M., Somers K.L., Thrall M.A., et al. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 2001, 11:1283-1287.
37. Zimran A., Brill-Almon E., Chertkoff R., et al. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 2012, 118:5767-5773.