Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease

Abstract

Fabrazyme has been widely used for treatment of Fabry disease since its approval by the U.S. Food and Drug Administration in 2003. This study was undertaken to assess the short-term efficacy and safety of enzyme replacement therapy (ERT) for Fabry disease in Korea. Eight male patients and three female symptomatic carriers aged 13 to 48 yr were included. Fabrazyme was administered by intravenous infusion at a dose of 1 mg/kg every 2 weeks. Plasma and urine globotriaosylceramide (GL-3) levels, serum creatinine, creatinine clearance, and 24-hr urine protein levels were measured every 3 months. Kidney biopsies, ophthalmologic exams, and pure tone audiometry were performed before and 1 yr after ERT. Kidney function, including serum creatinine, creatinine clearance, and the 24-hr urine protein level, remained stable during ERT. Plasma and urine GL-3 levels were reduced within 3 to 6 months of ERT initiation. Microvascular endothelial deposits of GL-3 were decreased from renal biopsy specimens after 1 yr of treatment. The severity of sensorineural hearing loss and tinnitus did not improve after ERT. ERT is safe and effective in stabilizing renal function and clearing microvascular endothelial GL-3 from kidney biopsy specimen in Korean patients with Fabry disease.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey

“…[14,15] However, there is no nationwide data available on the baseline clinical characteristics, molecular spectrum of the GLA gene mutations, and effects of ERT in a large cohort of patients in Korea. Thus, this study was performed to determine the baseline demographic profiles, clinical characteristics, and GLA mutation spectrum in patients with Fabry disease in Korea by using a nationwide survey.…”

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

“…From October 1998 to November 2009, 28 unrelated Korean families, comprised of 33 males and 16 females, had been diagnosed at the Asan Medical Center and enrolled in the Korean Fabry Registry. 19,21,22 Clinical manifestations were reviewed in five patients from four families (family 25-28) with the p.E66Q variant. GL3 was measured both in plasma and urine of the patients.…”

Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa

“…Enzyme replacement therapy (ERT) with agalsidase alfa (agala) alleviates many of the renal and cardiac signs and symptoms of FD, decreases pain and gastrointestinal symptoms, and improves overall quality of life (Dehout et al 2003;Beck et al 2004;Schwarting et al 2006;Choi et al 2008;Mehta et al 2009). In December 2009, because of a worldwide supply shortage of agalsidase beta (agalb), the only ERT then marketed in the United States, the US Food and Drug Administration approved HGT-REP-059, a protocol to allow access to agala for FD patients who were left without a therapeutic option.…”