Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

Jaurretche, Sebastián; Conde, Hernan; Schain, Ana Gonzalez; Ruiz, Franco; Sgro, Maria Victoria; Venera, Graciela Delia

doi:10.3390/genes13101751

Cited by 5 publications

(4 citation statements)

References 31 publications

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“…Because they present earlier and more severe renal damage, patients with the classic phenotype typically present greater urinary protein excretion [ 1 , 2 , 14 , 15 ]. The albuminuria found, similar between both phenotypes, can be explained by the high prevalence of cardiovascular risk factors present in the “late-onset” female group, who theoretically should have less albuminuria due to Fabry nephropathy but have kidney damage from causes other than Fabry [ 16 ]. FD cardiac involvement can occur both among adult patients with “classic” phenotypes and in “late-onset” phenotypes with cardiac presentation [ 1 , 2 ].…”

Section: Discussionmentioning

confidence: 99%

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Jaurretche,

Alonso,

Calvo

et al. 2024

Global Health, Epidemiology and Genomics

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Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the αGalA catalytic activity remains conserved (“amenable” genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed. We report the clinical characteristics of FD “amenable” cohort patients from Argentina, prior to starting treatment with migalastat. Seventeen Fabry adult patients were recruited from 13 Argentinian Centers; 8 males (47.1%) and 9 females (52.9%) were included. All genotypes included were missense-type “amenables” mutations. Some classic FD typical early manifestations were more frequent in patients with “classic” versus “late-onset” FD phenotype (pain, p=0.002; cornea verticillata, p=0.019). There was a statistically significant difference in estimated glomerular filtration rate in the “classic” versus “late-onset” phenotype (p=0.026) but no difference between genders (p=0.695). Left ventricular mass was similar between genders (p=0.145) and phenotypes (p=0.303). Cardiovascular risk factors were present among “late-onset” females (obesity 50% and smoke 25%). In patients who started “de novo” migalastat, the main indications were (i) heart disease, (ii) kidney damage, and (iii) pain, while in “switched from prior enzyme replacement therapy” patients, the most frequent indication was “patient decision;” this coincides with publications by other authors.

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Section: Discussionmentioning

confidence: 99%

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Jaurretche,

Alonso,

Calvo

et al. 2024

Global Health, Epidemiology and Genomics

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“…The conclusion was that patients with FD and "amenable" mutations who have received ERT can be safely switched to the oral chaperone migalastat. A recent review concluded that to date, the main useful biomarker for Fabry nephropathy monitoring in patients receiving migalastat is eGFR using equations with plasma creatinine [15].…”

Section: Discussionmentioning

confidence: 99%

FABRY DISEASE: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat. What Do We Know Today?

Perretta¹,

Jaurretche²

2022

Preprint

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Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. Cardiac, renal, and neurological involvement significantly reduces life expectancy. Until a few years ago, treatment options for Fabry disease were limited to enzyme replacement therapy with agalsidase alfa or beta administered by intravenous infusion every 2 weeks. Migalastat (Galafold®) is an oral pharmacological chaperone that increases enzyme activity of “amenable” mutations. The safety and efficacy of migalastat were supported in the phase III FACETS and ATTRACT studies, compared to available enzyme replacement therapies; showing a reduction in left ventricular mass, and stabilization of kidney function and plasma Lyso-Gb3. Similar results were confirmed in subsequent extension publications, both in patients who started migalastat as their first treatment and in patients who were previously on enzyme replacement therapy and switched to migalastat. In this review we describe the safety and efficacy of switching from enzyme replacement therapy to migalastat in patients with Fabry disease and “amenable” mutations, referring to publications available to date.

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“…The clinical meaning of this reduction in the outcome is still unclear. 16 Classical females and patients with late-onset phenotypes must be checked every six months or annually, and ERT must be started as soon as signs or symptoms develop.…”

Section: Indications and Issues Of Ertmentioning

confidence: 99%

Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data

Feriozzi,

Chimenti,

Reisin

2024

DDDT

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The clinical use of agalsidase alfa as enzyme replacement therapy (ERT) for Fabry disease (FD) has spread since 2001, and a large body of evidence of its effectiveness has been collected. This review presents the clinical and laboratory results achieved with agalsidase alfa, which has been published in the literature. Agalsidase alfa infusion slows down or stops the progression of renal damage, expressed by reduction or stabilization of the annual decline of the glomerular filtration rate; yearly decrease of glomerular filtration rate (slope) sometimes is reduced until its stabilization. ERT prevents or reduces the occurrence of hypertrophic cardiomyopathy or slows the increase over time if it is already present. Moreover, regarding neurological manifestations, ERT improves neuropathic pain and quality of life, and recent data indicated that it may also prevent the burden of cerebrovascular disease. In addition to ERT’s clinical benefits, crucial topics like the most appropriate time to start therapy and the role of anti-drug antibodies (ADA) are analyzed. Treatment with agalsidase alfa in patients with FD substantially improves their outcomes and enhances their quality of life in patients with FD.

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Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

Cited by 5 publications

References 31 publications

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

FABRY DISEASE: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat. What Do We Know Today?

Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data

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