Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 Italian Gaucher type I patients

JIMD Reports

Volumn 7, Issue , 2013, Pages 117-122

  Deroma, Laura ^a   Sechi, Annalisa ^a   Dardis, Andrea ^a   Macor, Daniela ^a   Liva, Giulia ^a   Ciana, Giovanni ^a   Bembi, Bruno ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Bone pain; Enzyme replacement therapy; Gauche disease; Gauche disease patient; Splenectomised patient

Indexed keywords

EID: 84908005880     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_158     Document Type: Chapter

References (16)

1. Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic & molecular bases of inherited disease. McGraw-Hill Medical Publishing Division, New York, pp 3635–3668
2. Czartoriska B, Tylki-Szymanska A, Lugowska A (2000) Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem 33(2):147–149
3. Drelichman G, Ponce E, Basack N et al (2007) Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr 151:197–201
4. Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A (2000) Withdrawal of enzyme replacement therapy in Gaucher’s disease. Br J Haematol 110:488–492
5. European Medicines Agency (EMEA) (2009) Supply shortages of Cerezyme and Fabrazyme – priority access for patients most in need of treatment recommended. Doc. Ref. EMEA/389995/2009. London, 25-6-2009
6. Giraldo P, Irun P, Alfonso P et al (2011) Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis 46:115–118
7. Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M (2011) Enzyme replacement therapy “drug holiday”: results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis 46:107–110
8. Grinzaid KA, Geller E, Hanna SL, Elsas LJ II (2002) Cessation of enzyme replacement therapy in Gaucher disease. Genet Med 4 (6):427–433
9. Hollak CEM, van Weely S, van Oers MHJ, Aerts JMFG (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93:1288–1292
10. Hollak CEM, vom Dahl S, Aerts JMFG et al (2010) Forze majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis 44:41–47
11. Hughes DA, Pastores GM (2010) The pathophysiology of GD – current understanding and rationale for existing end emerging therapeutic approaches. Wien Med Wochenschr 160:594–599
12. Jmoudiak M, Futerman AH (2005) Gaucher disease: pathological mechanisms and modern management. Br J Haematol 129:178–188
13. Pastores GM, Weinreb NJ, Aerts H et al (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41(Suppl 5):4–14
14. Schwartz IVD, Karam S, Ashton-Prolla P et al (2001) Effects of imilglucerase withdrawal on an adult with Gaucher disease. Br J Haematol 113:1089
15. Vom Dahl S, Poll LW, Haussinger D (2001) Clinical monitoring after cessation of enzyme replacement therapy in M Gaucher. Br J Haematol 113:1084–1085
16. Zimran A, Altarescu G, Elstein D (2011) Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis 46:111–114