Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Stirnemann, Jérôme ^a   Rose, Christian ^b   Serratrice, Christine ^c   Dalbies, Florence ^d   Lidove, Olivier ^e   Masseau, Agathe ^f   Pers, Yves Marie ^g   Baron, Camille ^h   Belmatoug, Nadia ⁱ  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIV LILLE   (France)

^c HÔPITAL SAINT JOSEPH   (France)

^d CHU MORVAN   (France)

^e GROUPE HOSPITALIER DIACONESSES CROIX SAINT SIMON   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

^h Genzyme SAS   (France)

ⁱ Section of Radiology   (France)

Author keywords

Enzyme replacement therapy; Gaucher disease; Imiglucerase supply constraint

Indexed keywords

CHITOTRIOSIDASE; DIPEPTIDYL CARBOXYPEPTIDASE; FERRITIN; HEMOGLOBIN; IMIGLUCERASE; RECOMBINANT ENZYME; TALIGLUCERASE; UNCLASSIFIED DRUG; VELAGLUCERASE; GLUCOSYLCERAMIDASE;

ADULT; AGED; ARTHRALGIA; ARTICLE; ASTHENIA; BONE DISEASE; BONE INFARCTION; BONE PAIN; CHILD; CLINICAL ASSESSMENT; COMPARATIVE STUDY; CONSTRAINT INDUCED THERAPY; CONTROLLED STUDY; DISEASE COURSE; DRUG DOSE REDUCTION; DRUG EFFICACY; EPISTAXIS; FATIGUE; FEMALE; FERRITIN BLOOD LEVEL; FOLLOW UP; FRENCHMAN; GAUCHER DISEASE; GAUCHER DISEASE TYPE 1; GINGIVA BLEEDING; HAND FRACTURE; HEMATOLOGIC DISEASE; HEMATOMA; HEPATOMEGALY; HUMAN; HYPERTENSION; KAPLAN MEIER METHOD; MAJOR CLINICAL STUDY; MALE; OBSERVATIONAL STUDY; OSTEOPOROSIS; PANCYTOPENIA; PATIENT INFORMATION; PATIENT SATISFACTION; PRACTICE GUIDELINE; PROBABILITY; RETROSPECTIVE STUDY; SCHOOL CHILD; SIDE EFFECT; SPINE INJURY; SPLENECTOMY; SPLENOMEGALY; STATISTICAL SIGNIFICANCE; THROMBOCYTE COUNT; TREATMENT DURATION; TREATMENT INDICATION; VERTEBRAL COMPRESSION; ADOLESCENT; ENZYME REPLACEMENT; EPIDEMIOLOGY; FRANCE; MIDDLE AGED; SUPPLY AND DISTRIBUTION; TREATMENT OUTCOME; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; ENZYME REPLACEMENT THERAPY; FRANCE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MIDDLE AGED; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84938675101     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0275-0     Document Type: Article

References (34)

1. Beutler E, Grabowski G. Glucosylceramide lipidosis-Gaucher disease. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill Publishers; 2001. p. 3635-68.
2. Stirnemann J, de Villemeur TB, Heraoui D, Belmatoug N. Comite d'evaluation du traitement de la maladie de Gaucher. [Gaucher disease]. Rev Prat. 2011;61:165-8.
3. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-43.
4. Grabowski GA. Gaucher disease. Enzymology, genetics, and treatment. Adv Hum Genet. 1993;21:377-441.
5. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160:603-8.
6. Stirnemann J, Belmatoug N. [Management of Gaucher disease in France]. Presse Med. 2009;38:2S1-5.
7. Weinreb NJ, Goldblatt J, Villalobos J, Charrow J, Cole JA, Kerstenetzky M, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36:543-53.
8. Haute Autorite de sante: Gaucher Disease: National Diagnosis and Treatment Protocol [http://www.has-sante.fr/portail/upload/docs/application/pdf/ven-gaucher-web.pdf]
9. Hollak CE, Maas M, Aerts JM. Clinically relevant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis. 2001;24 Suppl 2:97-105. discussion 187-108.
10. Genzyme Corporation - a Sanofi company: Summary of Product Characteristics of Cerezyme® (imiglucerase) [http://www.emea.europa.eu/docs/en-GB/document-library/EPAR-Product-Information/human/000157/WC500024112.pdf]
11. Weinreb N, Taylor J, Cox T, Yee J, vom Dahl S. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83:890-5.
12. Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009;11:92-100.
13. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41:4-14.
14. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113:112-9.
15. Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, et al. International Collaborative Gaucher Group USRC: Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005;7:105-10.
16. de Fost M, Hollak CE, Groener JE, Aerts JM, Maas M, Poll LW, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood. 2006;108:830-5.
17. Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22:119-26.
18. Weinreb NJ. Imiglucerase and its use for the treatment of Gaucher's disease. Expert Opin Pharmacother. 2008;9:1987-2000.
19. European Medicines Agency. Questions and answers on the shortages of Cerezyme and Fabrazyme (25 June 2009) [http://www.ema.europa.eu/docs/en-GB/document-library/Medicine-QA/2010/01/WC500059215.pdf]
20. European Medicines Agency. Questions and answers on the shortages of Cerezyme and Fabrazyme (14 August 2009) [http://www.ema.europa.eu/docs/en-GB/document-library/Medicine-QA/2009/12/WC500018393.pdf]
21. European Medicines Agency. Updated temporary treatment recommendations for Cerezyme (22 Oct 2009) [http://www.ema.europa.eu/docs/en-GB/document-library/News-article/2009/12/WC500018392.pdf]
22. Hollak CEM. Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis. 2010;44:41-7.
23. Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, et al. The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012;7:77.
24. Zimran A, Altarescu G, Elstein D. Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis. 2011;46:111-4.
25. Deroma L, Sechi A, Dardis A, Macor D, Liva G, Ciana G, et al. Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients. JIMD Rep. 2013;7:117-22.
26. van Dussen L, Cox TM, Hendriks EJ, Morris E, Akkerman EM, Maas M, et al. Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes. Haematologica. 2012;97:1850-4.
27. Giraldo P, Irun P, Alfonso P, Dalmau J, Fernandez-Galan MA, Figueredo A, et al. Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis. 2011;46:115-8.
28. Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M. Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis. 2011;46:107-10.
29. Chien YH, Lee NC, Tsai FJ, Chao MC, Hwu WL. Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease. Mol Genet Metab. 2010;101:90-1.
30. Grinzaid KA, Geller E, Hanna SL, Elsas 2nd LJ. Cessation of enzyme replacement therapy in Gaucher disease. Genet Med. 2002;4:427-33.
31. Czartoryska B, Tylki-Szymanska A, Lugowska A. Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem. 2000;33:147-9.
32. Toth J, Erdos M, Marodi L. Rebound hepatosplenomegaly in type 1 Gaucher disease. Eur J Haematol. 2003;70:125-8.
33. Drelichman G, Ponce E, Basack N, Freigeiro D, Aversa L, Graciela E, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr. 2007;151:197-201.
34. Stirnemann J, Belmatoug N, Vincent C, Fain O, Fantin B, Mentre F. Bone events and evolution of biologic markers in Gaucher disease before and during treatment. Arthritis Res Ther. 2010;12:R156.