Agalsidase alfa treatment response in argentinian Fabry patients evaluated during 4 years

NEUMANN P; CACERES G; KISINOVSKI I; QUARIN A; GASTALDI A; CHOUA M; FRANCISCUTTI M; GHISOLFO H; FORRESTER ; DE FRANCESCO, PN; CECI R; ROZENFELD, P.A

Natal

Congreso; : IV Congreso Latinoamericano de Enfermedades Lisosomales; 2011

Introduction: Fabry Outcome Survey (FOS) is a longitudinal multicenter observational survey of Fabry patients. The objectives of this registry are to monitor natural history and treatment response in real-world patients. Data registered in FOS is useful to analyze the effect of therapy. Materials and methods: Fifty eight Fabry argentinian patients in ERT, 28 females and 32 males, registered in FOS were included in this study. Evaluation of agalsidase alfa treatment at 1, 2, 3 and 4 years, was assayed by periodical determination of the following parameters: serum creatinine, creatinine clearance, proteinuria, left ventricular (LV) mass, pain (BPI) and quality of life (EQ-5D). Results: Renal function was stable in patients on ERT, with a mean change of GFR of -0.07719, 0.1208 and -0.0006629 ml/min/y for stage I (p=0.4528), II (p=0.1646), and III (p=0.9930), patients, respectively. LV mass assessment revealed non significant change (p=0.2564) of LV mass in patients without LVH and an improvement of -0.26mm/y (p=0.0204) in patients with LVH at initiation of ERT. Patients showed an improvement in quality of life, as measured by EQ5D score at 3 years (p=0.0156) and Health state today VAS at 3 and 4 years (p<0,03). Pain on average was reduced in patients on ERT (p<0,02), however no significant change was observed at the worst pain in the last 24 hours. Conclusions: Assessment of renal function, left ventricular mass and pain revealed an improvement in Fabry patients on agalsidase alfa after 4 years of treatment, resulting in a benefit in quality of life.