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Fabry disease: overall effects of agalsidase alfa treatment.
Eur J Clin Invest. 2004 Dec; 34(12):838-44.EJ

Abstract

BACKGROUND

Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. The Fabry Outcome Survey (FOS) is a European outcomes database which was established to collect data on the natural history of this little-known disease and to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life.

DESIGN

The effects of 1 and 2 years of ERT with agalsidase alfa on renal function (assessed by estimated glomerular filtration rate), heart size (assessed by echocardiography), pain (assessed by the Brief Pain Inventory) and quality of life (assessed by the European Quality of Life Questionnaire EQ-5D) were analyzed in a cohort of 545 patients, 314 of whom were receiving treatment (188 for at least 12 months and 92 for at least 24 months; mean duration of treatment, 17 months; maximum duration, 56 months).

RESULTS

Treatment with agalsidase alfa stabilized renal function in patients with a mild or moderate deterioration in renal function at baseline, reduced left ventricular size in patients who had an enlarged heart at baseline, and improved pain scores and quality of life. These improvements were similar in hemizygous men and heterozygous women with Fabry disease.

CONCLUSIONS

Enzyme replacement therapy with agalsidase alfa leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder.

Authors+Show Affiliations

Department of Paediatrics, University of Mainz, Mainz, Germany. beck@kinder.klinik.uni-mainz.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15606727

Citation

Beck, M, et al. "Fabry Disease: Overall Effects of Agalsidase Alfa Treatment." European Journal of Clinical Investigation, vol. 34, no. 12, 2004, pp. 838-44.
Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004;34(12):838-44.
Beck, M., Ricci, R., Widmer, U., Dehout, F., de Lorenzo, A. G., Kampmann, C., Linhart, A., Sunder-Plassmann, G., Houge, G., Ramaswami, U., Gal, A., & Mehta, A. (2004). Fabry disease: overall effects of agalsidase alfa treatment. European Journal of Clinical Investigation, 34(12), 838-44.
Beck M, et al. Fabry Disease: Overall Effects of Agalsidase Alfa Treatment. Eur J Clin Invest. 2004;34(12):838-44. PubMed PMID: 15606727.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fabry disease: overall effects of agalsidase alfa treatment. AU - Beck,M, AU - Ricci,R, AU - Widmer,U, AU - Dehout,F, AU - de Lorenzo,A García, AU - Kampmann,C, AU - Linhart,A, AU - Sunder-Plassmann,G, AU - Houge,G, AU - Ramaswami,U, AU - Gal,A, AU - Mehta,A, PY - 2004/12/21/pubmed PY - 2005/3/15/medline PY - 2004/12/21/entrez SP - 838 EP - 44 JF - European journal of clinical investigation JO - Eur J Clin Invest VL - 34 IS - 12 N2 - BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. The Fabry Outcome Survey (FOS) is a European outcomes database which was established to collect data on the natural history of this little-known disease and to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life. DESIGN: The effects of 1 and 2 years of ERT with agalsidase alfa on renal function (assessed by estimated glomerular filtration rate), heart size (assessed by echocardiography), pain (assessed by the Brief Pain Inventory) and quality of life (assessed by the European Quality of Life Questionnaire EQ-5D) were analyzed in a cohort of 545 patients, 314 of whom were receiving treatment (188 for at least 12 months and 92 for at least 24 months; mean duration of treatment, 17 months; maximum duration, 56 months). RESULTS: Treatment with agalsidase alfa stabilized renal function in patients with a mild or moderate deterioration in renal function at baseline, reduced left ventricular size in patients who had an enlarged heart at baseline, and improved pain scores and quality of life. These improvements were similar in hemizygous men and heterozygous women with Fabry disease. CONCLUSIONS: Enzyme replacement therapy with agalsidase alfa leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder. SN - 0014-2972 UR - https://www.unboundmedicine.com/medline/citation/15606727/Fabry_disease:_overall_effects_of_agalsidase_alfa_treatment_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0014-2972&date=2004&volume=34&issue=12&spage=838 DB - PRIME DP - Unbound Medicine ER -