BACKGROUND AND OBJECTIVES: Fabry disease is a rare X-linked disease with multisystemic manifestations. This study investigated the effectiveness of long-term enzyme replacement therapy with agalsidase alfa in Fabry nephropathy treatment. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this observational study, data on patients receiving agalsidase alfa (0.2 mg/kg every other week) were extracted from the Fabry Outcome Survey, an international registry of patients with Fabry disease. Serum creatinine and estimated GFR (eGFR) at baseline and after ≥5 years of treatment were assessed; 24-hour urinary protein excretion and BP measurements were also reviewed. The eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration formula. Patients with an eGFR <30 ml/min per 1.73 m(2) were excluded. RESULTS: Renal function was assessed in 208 patients (mean enzyme replacement therapy, 7.4 years; range, 5.0-11.2 years). Mean yearly change in eGFR was -2.2 ml/min per 1.73 m(2) in men and -0.7 ml/min per 1.73 m(2) in women (95% confidence limits, -2.8; -1.7 and -1.4; 0.0, respectively). Patients with 24-hour protein excretion >1 g/24 h had poorer renal function at baseline and follow-up compared with patients with protein excretion of 500-1000 mg/24 h or with proteinuria <500 mg/24 h. Renal function was worse in patients with baseline arterial hypertension, and there was a more rapid yearly decline compared with normotensive patients. CONCLUSIONS: This study suggests that long-term agalsidase alfa therapy is able to stabilize the rate of Fabry nephropathy progression in women and is associated with a mild to moderate decline of renal function in men.
BACKGROUND AND OBJECTIVES:Fabry disease is a rare X-linked disease with multisystemic manifestations. This study investigated the effectiveness of long-term enzyme replacement therapy with agalsidase alfa in Fabry nephropathy treatment. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this observational study, data on patients receiving agalsidase alfa (0.2 mg/kg every other week) were extracted from the Fabry Outcome Survey, an international registry of patients with Fabry disease. Serum creatinine and estimated GFR (eGFR) at baseline and after ≥5 years of treatment were assessed; 24-hour urinary protein excretion and BP measurements were also reviewed. The eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration formula. Patients with an eGFR <30 ml/min per 1.73 m(2) were excluded. RESULTS: Renal function was assessed in 208 patients (mean enzyme replacement therapy, 7.4 years; range, 5.0-11.2 years). Mean yearly change in eGFR was -2.2 ml/min per 1.73 m(2) in men and -0.7 ml/min per 1.73 m(2) in women (95% confidence limits, -2.8; -1.7 and -1.4; 0.0, respectively). Patients with 24-hour protein excretion >1 g/24 h had poorer renal function at baseline and follow-up compared with patients with protein excretion of 500-1000 mg/24 h or with proteinuria <500 mg/24 h. Renal function was worse in patients with baseline arterial hypertension, and there was a more rapid yearly decline compared with normotensive patients. CONCLUSIONS: This study suggests that long-term agalsidase alfa therapy is able to stabilize the rate of Fabry nephropathy progression in women and is associated with a mild to moderate decline of renal function in men.
Authors: Christoph Wanner; João P Oliveira; Alberto Ortiz; Michael Mauer; Dominique P Germain; Gabor E Linthorst; Andreas L Serra; László Maródi; Renzo Mignani; Bruno Cianciaruso; Bojan Vujkovac; Roberta Lemay; Dana Beitner-Johnson; Stephen Waldek; David G Warnock Journal: Clin J Am Soc Nephrol Date: 2010-09-02 Impact factor: 8.237
Authors: A Mehta; M Beck; P Elliott; R Giugliani; A Linhart; G Sunder-Plassmann; R Schiffmann; F Barbey; M Ries; J T R Clarke Journal: Lancet Date: 2009-12-12 Impact factor: 79.321
Authors: Saskia M Rombach; Bouwien E Smid; Gabor E Linthorst; Marcel G W Dijkgraaf; Carla E M Hollak Journal: J Inherit Metab Dis Date: 2014-02-04 Impact factor: 4.982
Authors: Michael Beck; Uma Ramaswami; Elizabeth Hernberg-Ståhl; Derralynn A Hughes; Christoph Kampmann; Atul B Mehta; Kathleen Nicholls; Dau-Ming Niu; Guillem Pintos-Morell; Ricardo Reisin; Michael L West; Jörn Schenk; Christina Anagnostopoulou; Jaco Botha; Roberto Giugliani Journal: Orphanet J Rare Dis Date: 2022-06-20 Impact factor: 4.303
Authors: Frank Weidemann; Johannes Krämer; Thomas Duning; Malte Lenders; Sima Canaan-Kühl; Alice Krebs; Hans Guerrero González; Claudia Sommer; Nurcan Üçeyler; Markus Niemann; Stefan Störk; Michael Schelleckes; Stefanie Reiermann; Jörg Stypmann; Stefan-Martin Brand; Christoph Wanner; Eva Brand Journal: J Am Soc Nephrol Date: 2014-02-20 Impact factor: 10.121
Authors: Anatália Labilloy; Robert T Youker; Jennifer R Bruns; Ira Kukic; Kirill Kiselyov; Willi Halfter; David Finegold; Semiramis Jamil Hadad do Monte; Ora A Weisz Journal: Mol Genet Metab Date: 2013-10-19 Impact factor: 4.797
Authors: Max C Liebau; Fabian Braun; Katja Höpker; Claudia Weitbrecht; Valerie Bartels; Roman-Ulrich Müller; Susanne Brodesser; Moin A Saleem; Thomas Benzing; Bernhard Schermer; Markus Cybulla; Christine E Kurschat Journal: PLoS One Date: 2013-05-17 Impact factor: 3.240