Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease

The Journal of Pediatrics
R SchiffmannJ T R Clarke

Abstract

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 alpha-galactosidase A. 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. 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. This clinical trial demonstrates that treatment with agalsidase alfa was well tolerated and associated with improvement of Fabry disease-related features.

References

Nov 1, 1976·Archives of Disease in Childhood·R CounahanT M Barratt
Mar 1, 1985·Asia-Oceania Journal of Obstetrics and Gynaecology·O TsutsumiS Sakamoto
May 25, 1967·The New England Journal of Medicine·R O BradyL Laster
Jan 5, 2000·Proceedings of the National Academy of Sciences of the United States of America·R SchiffmannR O Brady
Apr 5, 2001·European Heart Journal·P R RijnbeekJ A Kors
Jun 21, 2001·JAMA : the Journal of the American Medical Association·R SchiffmannR O Brady
Jul 7, 2001·The New England Journal of Medicine·C M EngUNKNOWN International Collaborative Fabry Disease Study Group
Dec 10, 2002·American Journal of Human Genetics·Daniël BlomJohannes M F G Aerts
Feb 8, 2003·Acta Paediatrica. Supplement·C S Cleeland
Apr 30, 2003·Diabetes Care·Aaron I VinikRoy Freeman
Sep 25, 2003·European Journal of Pediatrics·Markus RiesMichael Beck
Apr 17, 2004·Seminars in Neurology·Aaron I VinikTomris Erbas
Aug 24, 2004·The Clinical Journal of Pain·San KellerCharles S Cleeland
Feb 17, 2005·Pediatrics·Markus RiesRaphael Schiffmann
Oct 6, 2005·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRoscoe O Brady
Feb 28, 2006·Acta Paediatrica·Uma RamaswamiUNKNOWN FOS European Investigators
Sep 5, 2006·Pediatrics·Markus RiesRaphael Schiffmann
Dec 21, 2006·Annals of Internal Medicine·Maryam BanikazemiUNKNOWN Fabry Disease Clinical Trial Study Group
Apr 6, 2007·Journal of the American Society of Nephrology : JASN·Dominique P GermainNathalie Guffon
Mar 28, 2008·Acta Paediatrica·Christoph KampmannMichael Beck
Jun 24, 2008·International Journal of Cardiology·Christoph KampmannMichael Beck
Jul 4, 2008·Pediatric Research·Robert J HopkinWilliam R Wilcox
Mar 7, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jean-Claude LubandaAnna Tylki-Szymanska

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Citations

Aug 21, 2013·Current Treatment Options in Neurology·Erika F Augustine, Jonathan W Mink
Apr 12, 2013·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·Aritz Perez Ruiz de GaribayAlicia Rodríguez-Gascón
May 17, 2013·Journal of Human Genetics·Takahito InoueShinichi Hirose
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Jan 1, 2013·Journal of the American Society of Nephrology : JASN·Camilla TøndelEinar Svarstad
May 10, 2011·Drug Design, Development and Therapy·Uma Ramaswami
Mar 30, 2011·Therapeutics and Clinical Risk Management·Majid Alfadhel, Sandra Sirrs
May 17, 2014·Journal of Inherited Metabolic Disease·L J AndersonS Logan
Nov 27, 2014·Orphanet Journal of Rare Diseases·Raphael SchiffmannAnna Wijatyk
Jul 28, 2010·QJM : Monthly Journal of the Association of Physicians·A MehtaD P Germain
Mar 15, 2014·Anais Brasileiros De Dermatologia·Letícia Bueno Nunes da SilvaAdriana Maria Porro
Nov 8, 2015·Molecular Genetics and Metabolism·Robert J HopkinUNKNOWN Fabry Pediatric Expert Panel
Sep 15, 2012·Actas dermo-sifiliográficas·R M GuinovartC Ferrándiz
May 3, 2011·Medicina clínica·Abelardo García de Lorenzo, UNKNOWN en nombre del grupo de enfermedad de FABRY-GETER
Aug 14, 2012·Clinical Genetics·L BorgwardtA Meldgaard Lund
Dec 1, 2010·Acta Paediatrica·U RamaswamiM Beck
Aug 2, 2015·Heart Failure Reviews·Aashish SharmaClaudio Ronco
Jun 15, 2016·CNS Neuroscience & Therapeutics·Juan M PoliteiAlessandro Burlina
Feb 27, 2015·PloS One·Mariam MeghdariDavid H Calhoun
Jan 21, 2017·Annales de dermatologie et de vénéréologie·F Stephan, R Haber
Sep 1, 2010·Expert Review of Endocrinology & Metabolism·Atul Mehta
Jan 22, 2013·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Melanie D Sivley
Oct 27, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Atul MehtaOlivier Lidove
Oct 22, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Olivier LidoveAtul Mehta
Oct 27, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raphael Schiffmann
Jul 28, 2018·Journal of Medicinal Chemistry·Brian Raymer, Samit K Bhattacharya
Feb 20, 2018·Drug Discovery Today·Yvonne SchullerCarla E M Hollak

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