Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 1, 2011, Pages 115-118

  Giraldo, Pilar ^a,b,c   Irún, Pilar ^b,c   Alfonso, Pilar ^b,c   Dalmau, Jaime ^d   Fernández Galán, Maria A ^e   Figueredo, Antonio ^f   Hernández Rivas, Jesús M ^g   Julia, Antonio ^h   Luño, Elisa ⁱ   Marín Jimenez, Francisca ^j   Martín Nuñez, Guillermo ^e   Montserrat, Jorge L ^k   de la Serna, Javier ^l   Vidaller, Antonio ^m   Villalón, Lucia ⁿ   Pocovi, Miguel ^b,c,o  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d Paediatric Department HU La Fé   (Spain)

^e Haematology Department H Virgen del Puerto   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^g Haematology Department H Clínico Salamanca   (Spain)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁱ Haematology Department HGeneral de Asturias   (Spain)

^j HU de Elche   (Spain)

^k Haematology Department HU Virgen de la Arritxaca   (Spain)

^l HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^m HU Bellvitge   (Spain)

ⁿ HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^o UNIVERSITY OF ZARAGOZA   (Spain)

more..

Author keywords

Biomarkers; Cerezyme; Enzyme discontinuation; Gaucher disease; Imiglucerase shortage

Indexed keywords

ANALGESIC AGENT; ANTIINFLAMMATORY AGENT; BISPHOSPHONIC ACID DERIVATIVE; CCL18 CHEMOKINE; CHEMOKINE; CHITOTRIOSIDASE; IMIGLUCERASE; MIGLUSTAT; UNCLASSIFIED DRUG;

ADULT; AGED; ANEMIA; ARTICLE; BONE DISEASE; BONE PAIN; CONTROLLED STUDY; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ENZYME REPLACEMENT; FATIGUE; FEMALE; FOLLOW UP; GAUCHER DISEASE; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; LIVER SIZE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SPAIN; SPLEEN SIZE; SPLENECTOMY; SPLENOMEGALY; THROMBOCYTE COUNT;

ADOLESCENT; ADULT; AGED, 80 AND OVER; ENZYME REPLACEMENT THERAPY; FEMALE; FOLLOW-UP STUDIES; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MIDDLE AGED; SPAIN; TREATMENT OUTCOME; YOUNG ADULT;

EID: 78650849486     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.09.005     Document Type: Article

References (19)

1. Beutler E., Grabowski G.A. Gaucher disease. The metabolic and molecular bases of inherited disease 2001, 3635-3668. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Brady R.O., Pentchev P.G., Gal A.E., et al. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J. Med. 1974, 291:989-993.
3. Grabowski G.A., Barton N.W., Pastores G., et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. 1995, 122:33-39.
4. Barton N.W., Brady R.O., Dambrosia J.M., et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J. Med. 1991, 324:1464-1470.
5. Cox T., Lachmann R., Hollak C., Aerts J., et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000, 355:1481-1485.
6. Hollak C.E., vom Dahl S., Aerts J.M., et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol. Dis. 2010, 44:41-47.
7. Elstein D., Abrahamov A., Hadas-Halpern I., Zimran A. Withdrawal of enzyme replacement therapy in Gaucher's disease. Br. J. Haematol. 2000, 110:488-492.
8. vom Dahl S., Poll L.W., Haussinger D. Clinical monitoring after cessation of enzyme replacement therapy in M. Gaucher. Br. J. Haematol. 2001, 113:1084-1087.
9. Schwartz I.V., Karam S., Ashton-Prolla P., et al. Effects of Imiglucerase withdrawal on an adult with Gaucher disease. Br. J. Haematol. 2001, 113:1089.
10. Grinzaid K.A., Geller E., Hanna S.L., Elsas L.J. Cessation of enzyme replacement therapy in Gaucher disease. Genet. Med. 2002, 4:427-433.
11. Toth J., Erdos M., Marodi L. Rebound hepatosplenomegaly in type 1 Gaucher disease. Eur. J. Haematol. 2003, 70:125-128.
12. Drelichman G., Ponce E., Basack N., et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J. Pediatr. 2007, 151:197-201.
13. Giraldo P., Pocoví M., Pérez-Calvo J.I., et al. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. Haematologica 2000, 85:792-799.
14. Alfonso P., Aznarez S., Giralt M., et al. Spanish Gaucher's Disease Registry. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J. Hum. Genet. 2007, 52:391-396.
15. Zimran A., Kay A., Gelbart T., et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992, 71:337-353.
16. Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93:1288-1292.
17. Boot R.G., Verhoek M., de Fost M., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004, 103:33-39.
18. Heitner R., Arndt S., Levin J.B. Imiglucerase low-dose therapy for paediatric Gaucher disease-a long-term cohort study. S. Afr. Med. J. 2004, 94:647-651.
19. Andersson H.C., Charrow J., Kaplan P., et al. International Collaborative Gaucher Group U.S. Regional Coordinators. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet. Med. 2005, 7:105-110.