Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Journal of Medical Genetics
Dominique P GermainWilliam R Wilcox

Abstract

Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy. The outcomes (severe clinical events, renal function, cardiac structure) of 52/58 patients with classic Fabry disease from the phase 3 clinical trial and extension study, and the Fabry Registry were evaluated. Disease progression rates for patients with low renal involvement (LRI, n=32) or high renal involvement (HRI, n=20) at baseline were assessed. 81% of patients (42/52) did not experience any severe clinical event during the treatment interval and 94% (49/52) were alive at the end of the study period. Ten patients reported a total of 16 events. Patients classified as LRI started therapy 13 years younger than HRI (mean 25 years vs 38 years). Mean slopes for estimated glomerular filtration rate for LRI and HRI were -1.89 mL/min/1.73 m(2)/year and -6.82 mL/min/1.73 m(2)/year, respectively. Overall, the mean left ventricular posterior wall thickness and interventricular septum thickness remained unchanged and normal. Patients who initiated treatment at age ≥ 40 years exhi...Continue Reading

References

Apr 1, 1985·Journal of the American Geriatrics Society·R D LindemanN W Shock
Apr 10, 1967·Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine·K NakaoT Miyatake
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
Sep 19, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christine M EngWilliam R Wilcox
Dec 21, 2006·Annals of Internal Medicine·Maryam BanikazemiUNKNOWN Fabry Disease Clinical Trial Study Group
Jan 9, 2007·Journal of Inherited Metabolic Disease·A C VedderC E M Hollak
Apr 6, 2007·Journal of the American Society of Nephrology : JASN·Dominique P GermainNathalie Guffon
Nov 27, 2007·Molecular Genetics and Metabolism·William R WilcoxUNKNOWN Fabry Registry
Apr 24, 2008·Nature Clinical Practice. Nephrology·Alberto OrtizDavid G Warnock
Apr 26, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Camilla TøndelEinar Svarstad
Feb 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRobert J Desnick
May 29, 2009·Journal of Medical Genetics·A MehtaUNKNOWN FOS Investigators
Oct 23, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Alberto OrtizDavid G Warnock
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
Mar 28, 2013·Orphanet Journal of Rare Diseases·Saskia M RombachCarla E M Hollak
May 25, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dominique P GermainUNKNOWN Fabry Registry

❮ Previous
Next ❯

Citations

Nov 8, 2015·Molecular Genetics and Metabolism·Robert J HopkinUNKNOWN Fabry Pediatric Expert Panel
Oct 27, 2016·Journal of Nephrology·Hernán TrimarchiElsa Zotta
Jul 18, 2015·Journal of the American Society of Nephrology : JASN·Malte LendersEva Brand
Mar 10, 2016·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·V BesgenY Wenner
Mar 13, 2016·Néphrologie & thérapeutique·Olivier LidoveDominique Joly
Nov 2, 2015·European Journal of Medical Genetics·Eric CaudronDominique P Germain
Sep 1, 2015·Journal of Genetic Counseling·Emily C Lisi, Shawn E McCandless
Oct 12, 2015·European Journal of Pediatrics·Takahiro KanaiTakanori Yamagata
Jun 15, 2016·CNS Neuroscience & Therapeutics·Juan M PoliteiAlessandro Burlina
Apr 29, 2016·Case Reports in Genetics·Theodoros GeorgiouGeorge A Tanteles
Sep 19, 2015·Journal of the American College of Cardiology·G William Dec, Eloisa Arbustini
May 1, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shuichi ItoDavid G Warnock
Dec 17, 2016·International Journal of Molecular Sciences·Hui-Yung SongShih-Hwa Chiou
Nov 12, 2016·PloS One·Daniel RobAleš Linhart
Feb 6, 2017·Continuum : Lifelong Learning in Neurology·Jennifer Juhl Majersik
Oct 3, 2017·Continuum : Lifelong Learning in Neurology·Sindhu Ramchandren
Aug 25, 2017·Journal of Medical Genetics·Sun Hee HeoBeom Hee Lee
Oct 12, 2017·Circulation. Cardiovascular Genetics·Daniel OderPeter Nordbeck
Apr 25, 2018·Transplantation·Sara ErsözlüAlbina Nowak
Nov 23, 2018·International Heart Journal·Miki TsujiuchiHiroshi Suzuki
Aug 11, 2018·Journal of the American Society of Nephrology : JASN·Malte Lenders, Eva Brand
Jun 20, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Rannveig SkrunesEinar Svarstad
Apr 5, 2019·Circulation. Cardiovascular Imaging·Antonia CamporealeMassimo Lombardi
May 31, 2019·Rinshō shinkeigaku = Clinical neurology·Toya Ohashi
Jul 25, 2019·Stroke; a Journal of Cerebral Circulation·Yoshiki YagitaHideki Mochizuki
Aug 27, 2019·Journal of Inherited Metabolic Disease·Albina NowakFrédéric Barbey
Oct 9, 2019·Journal of Parkinson's Disease·Miguel Fernandes GagoNuno Sousa
May 30, 2019·Journal of Inherited Metabolic Disease·Robin H Lachmann
Feb 6, 2020·Journal of Neuropathology and Experimental Neurology·Kelly Del TrediciHeiko Braak
Feb 23, 2020·Journal of Inherited Metabolic Disease·Sanne J van der VeenMirjam Langeveld
May 21, 2016·Current Opinion in Cardiology·Derralynn A Hughes
Jul 9, 2020·European Journal of Heart Failure·Aleš LinhartPerry Elliott

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
ELISA

Clinical Trials Mentioned

NCT00074971
NCT00196742

Software Mentioned

SAS

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.