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Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.
J Inherit Metab Dis. 2003; 26(7):617-27.JI

Abstract

Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Agalsidase alfa was safe and well-tolerated in female patients. None of the patients developed antibodies or experienced an infusion reaction to agalsidase alfa. The pharmacokinetic profile of agalsidase alfa in female patients is comparable to the pharmacokinetics of agalsidase alfa in male patients. Mean urine sediment and plasma Gb3 levels decreased from baseline at 13, 27 and 41 weeks. A significant decrease in left ventricular mass from baseline was seen at weeks 27 (p = 0.003) and 41 (p = 0.039), and a significant reduction in QRS durations was seen at week 27 (p = 0.007). Furthermore, there was a significant improvement in quality of life. Renal function did not deteriorate in these 15 female patients over the 13- to 41-week period of observation. We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease.

Authors+Show Affiliations

Children's Hospital, Johannes-Gutenberg University, Mainz, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Clinical Trial, Phase III
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14707510

Citation

Baehner, F, et al. "Enzyme Replacement Therapy in Heterozygous Females With Fabry Disease: Results of a Phase IIIB Study." Journal of Inherited Metabolic Disease, vol. 26, no. 7, 2003, pp. 617-27.
Baehner F, Kampmann C, Whybra C, et al. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis. 2003;26(7):617-27.
Baehner, F., Kampmann, C., Whybra, C., Miebach, E., Wiethoff, C. M., & Beck, M. (2003). Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. Journal of Inherited Metabolic Disease, 26(7), 617-27.
Baehner F, et al. Enzyme Replacement Therapy in Heterozygous Females With Fabry Disease: Results of a Phase IIIB Study. J Inherit Metab Dis. 2003;26(7):617-27. PubMed PMID: 14707510.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. AU - Baehner,F, AU - Kampmann,C, AU - Whybra,C, AU - Miebach,E, AU - Wiethoff,C M, AU - Beck,M, PY - 2004/1/7/pubmed PY - 2004/7/29/medline PY - 2004/1/7/entrez SP - 617 EP - 27 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 26 IS - 7 N2 - Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Agalsidase alfa was safe and well-tolerated in female patients. None of the patients developed antibodies or experienced an infusion reaction to agalsidase alfa. The pharmacokinetic profile of agalsidase alfa in female patients is comparable to the pharmacokinetics of agalsidase alfa in male patients. Mean urine sediment and plasma Gb3 levels decreased from baseline at 13, 27 and 41 weeks. A significant decrease in left ventricular mass from baseline was seen at weeks 27 (p = 0.003) and 41 (p = 0.039), and a significant reduction in QRS durations was seen at week 27 (p = 0.007). Furthermore, there was a significant improvement in quality of life. Renal function did not deteriorate in these 15 female patients over the 13- to 41-week period of observation. We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/14707510/Enzyme_replacement_therapy_in_heterozygous_females_with_Fabry_disease:_results_of_a_phase_IIIB_study_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=2003&volume=26&issue=7&spage=617 DB - PRIME DP - Unbound Medicine ER -