Using the International Gaucher Disease Registry data: Can we devise a virtuous circle for treated patients?

American Journal of Hematology

Volumn 83, Issue 12, 2008, Pages 887-889

  Elstein, Deborah ^a   Zimran, Ari ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

IMIGLUCERASE;

BONE PAIN; EDITORIAL; ENZYME REPLACEMENT; GAUCHER DISEASE; GENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REGISTER;

GAUCHER DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; OSTEONECROSIS; RECOMBINANT PROTEINS; REGISTRIES;

EID: 56749122033     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21306     Document Type: Editorial

References (23)

1. Weinreb NJ. Advances in Gaucher disease: Therapeutic goals and evaluation and monitoring guidelines. Semin Hematol 2004;41(4 Suppl 5):1-3.
2. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41(4 Suppl 5):4-14.
3. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324:1464-1470.
4. Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Amer J Hematol. DOI: 10.1002/ajh.21280.
5. Connock M, Burls A, Frew E, et al. The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: A systematic review. Health Technol Assess 2006;10:iii-iv, ix-136.
6. de Fost M, van Noesel CJ, Aerts JM, et al. Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 2008;93:1119-1120.
7. Sims KB, Pastores GM, Weinreb NJ, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: Results of a 48-month longitudinal cohort study. Clin Genet 2008;73:430-440.
8. Ciana G, Addobbati R, Tamaro G, et al. Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis 2005;28:723-732.
9. Parisi MS, Mastaglia SR, Bagur A, et al. Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. Eur J Med Res 2008;13:31-38.
10. Kaufman JM, Ostertag A, Saint-Pierre A, et al. Genome-wide linkage screen of bone mineral density (BMD) in European pedigrees ascertained through a male relative with low BMD values: Evidence for Quantitative Trait Loci on 17q21-23, 11q12-13, 13q12-14 and 22q11. J Clin Endocrinol Metab 2008;93:3755-3762.
11. Zimran A, Altarescu G, Rudensky B, et al. Survey of hematological aspects of Gaucher disease. Hematology 2005;10:151-156.
12. Beutler E. Enzyme replacement in Gaucher disease. PLoS Med 2004;1:e21.
13. Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: Effects of age, sex, genotype, and clinical features on response to treatment. Am J Med 1994;97:3-13.
14. Hollak CE, Aerts JM, Goudsmit R, et al. Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 1995;345:1474-1478.
15. de Fost M, Hollak CE, Groener JE, 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;108:830-835.
16. Beutler E. Treatment regimens in Gaucher's disease. Lancet 1995;346:581-582.
17. Elstein D, Dweck A, Attias D, et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: Switch from or combination with intravenous enzyme replacement. Blood 2007;110:2296-2301.
18. Weinreb N, Deegan P, Kacena K, et al. Life expectancy in Gaucher disease type 1. Amer J Hematol. DOI: 10.1002/ajh.21305.
19. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-548.
20. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267-288.
21. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007;120:405-418.
22. Pastores GM, Arn P, Beck M, et al. The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab 2007;91:37-47.
23. Wraith JE, 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.