A prospective 10‐year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

Abstract

Weekly enzyme infusions slow the decline of renal function in a subgroup of more severe patients thus showing that existing ERT can be further optimized.

Disease Progression Modeling to Evaluate the Effects of Enzyme Replacement Therapy on Kidney Function in Adult Patients with the Classic Phenotype of Fabry Disease

“…A recent study by Germain and colleagues showed that less affected individuals with a better preserved kidney function at baseline benefited from ERT, experiencing better renal and cardiovascular outcomes during the observational period [36]. Moreover, in male FD patients, enhanced therapeutic outcomes may occur if we increase the ERT dose [35, 37, 38], or frequency of infusions [39], in combination with intensified additional medication such as ARBs and ACE inhibitors [16]. In patients with amenable mutations, pharmacological chaperones have been shown as a useful therapeutic alternative [40, 41].…”

Prominent regression of corneal deposits in Fabry disease 16 years after initiation of enzyme replacement therapy

“…Cornea verticillata is the most distinctive clinical ocular finding of Fabry disease (Sher et al 1979;Sodi et al 2006). Enzyme replacement therapy (ERT) has been used for treatment of Fabry disease for over 10 years, and some recent studies have reported the long-term therapeutic efficacy of ERT on cardiac or kidney function over 10 years (Germain et al 2015;Schiffmann et al 2015). While little is known about corneal changes associated with long-term ERT (Fledelius et al 2015), we report a case of marked regression of corneal deposits in a patient with Fabry disease 16 years after ERT.…”

Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy

“…21 22 More aggressive approaches have been tried to control the proteinuria in highrisk group Fabry patients, 23 24 including the use of weekly rather than every other week ERT dosing. 25 In addition, neutralising antibodies directed against agalsidase-beta may be another factor that may limit the success in controlling proteinuria and/ or stabilising renal function. 26 The importance of the age at which ERT is initiated was recently emphasised 12 and is confirmed by the present findings, suggesting that severe underlying changes in renal structure 21 may limit the beneficial effects of controlling urine protein excretion.…”