P0067PREDICTORS OF LONG-TERM OUTCOME IN A SPANISH COHORT OF PATIENTS WITH FABRY DISEASE ON ENZYME REPLACEMENT THERAPY

• Published in: Nephrology, dialysis, transplantation Vol. 35; no. Supplement_3
• Main Authors: Goicoechea, Marian, Gomez-Preciado, Francisco, Benito, Silvia, Torras, Joan, Torra, Roser, Huerta, Ana, Restrepo, Alejandra, Ugalde, Jessica, Astudillo, Daniela, Agraz, Irene, Lopez-Mendoza, Manuel, De Arriba, Gabriel, Corchete, Elena, Quiroga, Borja, Martin-Conde, Maria Luisa, Gutierrez, Maria Jose, Lopes, Vanessa, Ramos, Carmela, Mendez, Irene, Cao, Mercedes, Dominguez, Fernando, Ortiz, Alberto
• Format: Journal Article
• Language: English
• Published: Oxford University Press 01.06.2020
• ISSN: 0931-0509; 1460-2385
• DOI: 10.1093/ndt/gfaa142.P0067

Abstract Background and Aims Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and predictors of clinical events in Fabry disease patients on ERT. Method Multicentre retrospective observational analysis of patients diagnosed and treated with ERT for Fabry disease. The primary outcome was the first renal, neurological or cardiological events or death during a follow-up of 60 months (24-120). Results In 69 patients (42 males, 27 females, mean age 44.6 ±13.7 years), at the end of follow-up, eGFR and the left ventricular septum thickness remained stable and the urinary albumin: creatinine ratio tended to decrease, but this decrease only approached significance in patients on agalsidase-beta (242 to 128 mg/g (p = 0.05). At the end of follow-up, 21 (30%) patients had suffered an incident clinical event: 6 renal, 2 neurological and 13 cardiological (including 3 deaths). Events were more frequent in patients with baseline eGFR ≤60 ml/min/1.73 m2 (log Rank 12.423, p=0.001), and this remained significant even after excluding incident renal events (log Rank 4.086, p=0.043), being these differences more relevant in females (log Rank 18.514, p<0.001) than males (logRank: 3.442, p=0.064). Lower baseline eGFR was associated with a 3- to 7-fold increase in the risk of clinical events in different Cox models. Conclusion GFR at the initiation of ERT is the main predictor of clinical events, both in males and in females, suggesting that start of ERT prior to the development of CKD is associated with better outcomes. For the first time, we show that initiation of ERT in women before renal function deteriorates has a similar or even larger impact as in Fabry males to prevent clinical events.