Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

Tsuboi, Kazuya; Yamamoto, Hiroshi

doi:10.1186/s40360-017-0152-7

Cited by 14 publications

(12 citation statements)

References 28 publications

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“…An S1P receptor antagonist [FTY720 (fingolimod)] and a humanized monoclonal S1P antibody (LT1009) are available and they might represent a means to deplete S1P levels in patients with NPHS14 [ 10 , 20 , 21 ]. In addition, SGPL1 enzyme replacement therapy may be a potential therapeutic intervention, similar to the one used for Gaucher disease and Fabry disease [ 22 , 23 ].…”

Section: Treatmentmentioning

confidence: 99%

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1

Linhares

Arantes

Araújo

et al. 2017

Clinical Kidney Journal

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Little is known about the molecular pathogenesis of congenital nephrotic syndrome in association with primary adrenal insufficiency. Most recently, three groups found concurrently the underlying genetic defect in the gene sphingosine-1-phosphate lyase 1 (SGPL1) and called the disease nephrotic syndrome type 14 (NPHS14). In this report we have performed whole-exome sequencing and identified a new homozygous variant in SGPL1, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. Her brother died previously with the same phenotype and hyperpigmentation of the skin. We reviewed the reported cases and concluded that NPHS14 is a clinically recognizable syndrome. The discovery of this syndrome may contribute to the diagnosis and description of additional patients who could benefit from treatment, genetic counseling and screening for related comorbidities. Until now, patients with congenital nephrotic syndrome associated with primary adrenal insufficiency have been treated as having two different diseases; however, the treatment for patients with NPHS14 should be unique, possibly targeting the sphingolipid metabolism.

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Section: Treatmentmentioning

confidence: 99%

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1

Linhares

Arantes

Araújo

et al. 2017

Clinical Kidney Journal

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“…In the phase III ATT RAC T study, migalastat is a treatment option for ERTexperienced patients [18]. No racial differences have been reported with regard to Fabry disease, and its clinical phenotypes are likely similar among races [2,6,22]. Therefore, it is meaningful that this subanalysis of Japanese patients showed that the efficacy of migalastat was not affected by race; there were also no unexpected safety concerns.…”

Section: Discussionmentioning

confidence: 91%

“…Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta is the mainstay of treatment [5]. Results of previous clinical studies have shown efficacy and good tolerability of ERT in some Japanese patients with Fabry disease [6,7]. However, several challenges remain, including infusion-associated reactions, reduced quality of life associated with lifelong parenteral treatment, and the decrease in efficacy after development of circulating antibodies to the enzyme [8,9].…”

Section: Introductionmentioning

confidence: 99%

“…Only a few prospective studies have been performed in Japanese patients with Fabry disease, highlighting the importance of the current findings, despite the small sample size. A recently reported observational study conducted in 36 previously untreated Japanese patients showed that ERT can stabilize renal function and prevent deterioration of cardiac function [6]. The patients in this recent study were relatively young (mean age 27 and 45 years for men and women, respectively), whereas the Japanese patients in the ATT RAC T study were older (mean age 55 years), had previously been treated with ERT for 12 months or more before enrollment, and had a high disease burden.…”

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confidence: 99%

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Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study

et al. 2019

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Background Fabry disease is a progressive X-linked lysosomal disorder. In this subgroup analysis of the global phase III ATT RAC T study, the efficacy and safety of oral migalastat, a pharmacologic chaperone, were investigated in Japanese patients with Fabry disease. Methods Patients were randomly assigned to receive migalastat (150 mg every other day) or to continue biweekly enzyme replacement therapy infusions (ERT; agalsidase alfa 0.2 mg/kg or agalsidase beta 1.0 mg/kg) for 18 months followed by a 12-month open-label extension during which all patients received migalastat. End points included glomerular filtration rate (estimated and measured), left ventricular mass index (LVMi), composite clinical outcomes, leukocyte alpha-galactosidase A activity, plasma globotriaosylsphingosine (lyso-Gb 3 ), and safety. Results Data from 7 Japanese patients (migalastat, 5; ERT, 2), mean age 55 years, with high disease burden, were analyzed. All patients in the migalastat group completed the open-label comparison and extension periods. At 18 months, efficacy in the Japanese patient population was similar to that in the overall ATT RAC T population. Migalastat treatment increased leukocyte alpha-galactosidase A activity, stabilized renal function, and decreased LVMi. Plasma lyso-Gb 3 levels remained low and stable. Additionally, the long-term extension study showed that efficacy of migalastat was maintained for up to 48 months. Migalastat was safe and well tolerated in the Japanese patients, as in the overall ATT RAC T population. Conclusion Migalastat can be used to treat Japanese patients with Fabry disease with GLA mutations amenable to migalastat according to the dosage and administration approved in other countries. Trial registration numbers ClinicalTrials.gov, NCT01218659 and NCT02194985.Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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“…The efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta have been confirmed. Five years of treatment with ERT resulted in regression of LVH and an improvement in myocardial function in subgroups of patients [3], thus preventing these patients from experiencing cardiac function decline [4] in two previous studies. However, the long-term effects of ERT on cardiac dysfunction in Fabry disease are not clearly understood.…”

Section: Introductionmentioning

confidence: 93%