Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease

Raphael Schiffmann, Rick A. Martin, Tyler Reimschisel, Karen Johnson, Victoria Castaneda, Y. Howard Lien, Gregory M. Pastores, Christoph Kampmann, Markus Ries, Joe T.R. Clarke

Research output: Contribution to journalArticle

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Abstract

Objectives: To investigate a 4-year prospective clinical trial of agalsidase alfa in children with Fabry disease, an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A. Study design: Seventeen (16 boys, 1 girl; age range, 7.3 to 18.4 years) of the 24 children who completed a 6-month, open-label agalsidase alfa study enrolled in a 3.5-year extension study that investigated the safety and potential efficacy of long-term treatment. All 17 patients completed the initial 6-month study, and 10 patients (9 boys) completed the extension study. Results: Agalsidase alfa was well tolerated. In treated boys, there were sustained, statistically-significant improvements in the clinical features of Fabry disease, including reduced plasma globotriaosylceramide levels, reduced pain severity assessed by the Brief Pain Index, and improved heart rate variability. Mean urine globotriaosylceramide levels were reduced to normal range (P < .05 compared with baseline during 1.5 to 4 years). Kidney function and left ventricular mass indexed to height remained stable throughout. Conclusions: This clinical trial demonstrates that treatment with agalsidase alfa was well tolerated and associated with improvement of Fabry disease-related features.

Original languageEnglish (US)
JournalJournal of Pediatrics
Volume156
Issue number5
DOIs
StatePublished - Jan 1 2010

Fingerprint

Fabry Disease
Clinical Trials
Galactosidases
Pain
Left Ventricular Function
Reference Values
Heart Rate
Urine
Kidney
Safety
agalsidase alfa
Enzymes
Therapeutics
globotriaosylceramide

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Schiffmann, R., Martin, R. A., Reimschisel, T., Johnson, K., Castaneda, V., Lien, Y. H., ... Clarke, J. T. R. (2010). Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease. Journal of Pediatrics, 156(5). https://doi.org/10.1016/j.jpeds.2009.11.007

Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease. / Schiffmann, Raphael; Martin, Rick A.; Reimschisel, Tyler; Johnson, Karen; Castaneda, Victoria; Lien, Y. Howard; Pastores, Gregory M.; Kampmann, Christoph; Ries, Markus; Clarke, Joe T.R.

In: Journal of Pediatrics, Vol. 156, No. 5, 01.01.2010.

Research output: Contribution to journalArticle

Schiffmann, R, Martin, RA, Reimschisel, T, Johnson, K, Castaneda, V, Lien, YH, Pastores, GM, Kampmann, C, Ries, M & Clarke, JTR 2010, 'Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease', Journal of Pediatrics, vol. 156, no. 5. https://doi.org/10.1016/j.jpeds.2009.11.007
Schiffmann, Raphael ; Martin, Rick A. ; Reimschisel, Tyler ; Johnson, Karen ; Castaneda, Victoria ; Lien, Y. Howard ; Pastores, Gregory M. ; Kampmann, Christoph ; Ries, Markus ; Clarke, Joe T.R. / Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease. In: Journal of Pediatrics. 2010 ; Vol. 156, No. 5.
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