Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy

Abstract

Kidney transplantation should be the standard of care for Fabry patients progressing towards ESRD. Transplanted Fabry patients on ERT may do better than patients remaining on maintenance dialysis. Larger, controlled studies in Fabry patients with ESRD will have to demonstrate if ERT is able to change the trajectory of cardiac disease and can preserve graft renal function.

Fabry Nephropathy: An Evidence-Based Narrative Review

“…In a nationwide cross-sectional survey study with prospective follow-up, 33 Italian Fabry patients with ESRD that had either undergone kidney transplantation or were on maintenance dialysis therapy received ERT for a minimum of 3 years. Signs of progression of cardiomyopathy in Fabry patients on dialysis were observed, while Fabry patients with a renal allograft generally had a stable cardiac condition and a rate of decline in allograft renal function below levels reported for untreated non-ESRD Fabry patients [105]. Cybulla et al [106] examined the effects of agalsidase alfa in 20 transplant patients with Fabry disease in terms of allograft function after a median of ~3.5 years of treatment.…”

Maladie de Fabry : une maladie du métabolisme par déficit d’une enzyme lysosomale (alpha-galactosidase), de transmission héréditaire liée au chromosome X accessible au traitement enzymatique de substitution

“…Les études ont confirmé l'efficacité de l'enzymothérapie sur les douleurs. Elle permet une stabilisation de la fonction rénale [43,44], de la fonction cardiaque [45], de l'excrétion urinaire de Gb 3 , de la symptomatologie digestive, ORL [46] ou cérébrale [47]. L'efficacité a également été démontrée sur le plan histologique : patients traités n'ayant plus ou pratiquement plus de dépôts dans les cellules endothéliales des capillaires rénaux de Gb 3 ou encore dans les cellules endothéliales des capillaires cutanés ou du coeur [48].…”

Dialysis and Transplantation in Fabry Disease

“…Mignani and colleagues conducted a nationwide survey in Italy to elucidate the cardiac status in patients on RRT receiving ERT (30). A total of 33 patients could be included, 16 (one female) receiving dialysis treatment.…”

“…To further explore renal function and cardiac disease after transplantation, a nationwide collaborative study was conducted in Italy (30). Thus far, one patient of this largest study received agalsidase alfa and 16 received agalsidase beta at the standard dose.…”