EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES
https://doi.org/10.15690/pf.v11i3.1014
Abstract
The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease. 2 primary stages are distinguished: beginning of use of enzyme β-D-glycosidase analog obtained from placenta and alglucerase; introduction of recombinant glucocerebrosidase (imiglucerase). The article demonstrates that enzyme replacement therapy is the only efficient method of treating Gaucher’s disease; according to the international studies; it terminates the primary clinical manifestations of the disease, thus improving quality of life of the patients without any marked side effects. Imiglucerase is used at present; it causes hydrolysis of glycolipid glucocerebroside down to glucose and ceramide by the common way of metabolism of membrane lipids. Imiglucerase is indicated for long-term enzyme replacement therapy in patients with confirmed Gaucher’s disease (types 1 and 3).
About the Authors
O. S. Gundobina
Scientific Center of Children’s Health, Moscow
Russian Federation
MD, head of the department of medical rehabilitation for children with diseases of digestive organs of the research institute of preventive pediatrics and medical rehabilitation of the Scientific Center of Children’s Health (Federal State Budgetary Institution)
Russian Federation
MD, head of the department of medical rehabilitation for children with diseases of digestive organs of the research institute of preventive pediatrics and medical rehabilitation of the Scientific Center of Children’s Health (Federal State Budgetary Institution)
G. B. Movsisyan
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
L. S. Namazova-Baranova
Scientific Center of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
References
1. Zimran А., Elstein D. Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics: Targets and Therapy. 2009; 3: 407–417.
2. Charrow J., Esplin J. A., Gribble T. J., Kaplan P., Kolodny E. H., Pastores G. M. et al. Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring. Arch. Intern. Med. 1998; 158: 1754–1760.
3. Weinreb N. J., Goldblatt J., Villalobos J., Charrow J., Cole J. A., Kerstenetzky M., vom Dahl S., Hollak C. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J. Inherit. Metab. Dis. 2013; 36: 543–553.
4. Deegan P. B., Cox T. M. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug. Design, Development and Therapy. 2012; 6: 81–106.
5. Brady R. O. Enzyme replacement in the sphingolipidoses. In: J. A. Barrander, R. O. Brady, eds. The Molecular Basis of Lysosomal Storage Disorders. Orlando, Fla: Academic Press. 1984. Р. 461–478.
6. Barton N. W., Furbish F. S., Murray G. J., Garfield M., Brady R. O. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Nat. Acad. Sci. 1990; 87: 1913–6.
7. Hollak C. E. M., Aerts J. M. F.G., Van Weely S. et al. Enzyme supplementation therapy for type 1 Gaucher disease: efficacy of very low dose alglucerase in 12 patients. Blood. 1993; 82: 33A.
8. Gundobina O.S. Gaucher disease in children: general aspects. Farmateka = Pharmateca. 2013; 14 (267): 70–73.
9. Grabowski G. A., Hopkin R. J. Enzyme therapy for lysosomal storage disease: Principles, practice, and prospects. Annu Rev. Genomics Hum. Genet. 2003; 4: 403–436.
10. Gundobina O. S., Komarova E. V., Namazova-Baranova L. S., Gevorkyan A. K., Movsisyan G. B. Gaucher disease in children. Pediatricheskaya farmakologiya = Pediatric pharmacology. 2013; 10 (3): 72–75.
11. Pastores G. M., Weinreb N. J., Aerts H., Andria G., Cox T. M., Giralt M., Grabowski G. A., Mistry P. K., Tylki-Szymanska А. Therapeutic Goals in the Treatment of Gaucher Disease. Semin Hematol. 2004; 41 (5): 4–14.
12. Mistry P. K., Cappelini M. D., Lukina E., Ozsan H., Pascual S. M., Rosem baum H., Solano M. H., Spigelman Z., Villarrubia J., Watman N. P., Massenkeil G. Consensus Conference: A reappraisal of Gaucher disease — diagnosis and disease management algorithms. Am. J. Hematol. 2011; 86 (1): 110–115.
13. Weinreb N. J., Charrow J., Andersson H. C., Kaplan P., Kolodny E. H., Mistry P. et al. Effectiveness of enzyme replacement therapy in 1,028 patients with type 1 Gaucher disease after 2–5 years of treatment: A report from the Gaucher Registry. Am. J. Med. 2002; 113: 112–119.
14. Andersson H., Kaplan P., Kacena K., Yee J. Eight-year clinical outcomes of long-termenzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008; 122 (6): 1182–1190.
15. Shehi B., Bocari G., Vyshka G., Xhepa R., Alushani D. Gaucher’s Disease in Albanian Children: Casuistics and Treatment Iran J. Pediatr. 2011; 21 (1): 1–7.
16. Mistrya P. K., Weinrebb N. J., Kaplanc P., Coled J. A., Gwosdowd A. R., Hangartnere T. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol. Dis. 2011; 46 (1): 66–72.
Review
For citations:
Gundobina O.S., Movsisyan G.B., Namazova-Baranova L.S. EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES. Pediatric pharmacology. 2014;11(3):80-84. https://doi.org/10.15690/pf.v11i3.1014
Views:
958
Email this article 