Response to “Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real‐World Data”

Müntze, Jonas; Nordbeck, Peter

doi:10.1002/cpt.1533

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Chaperone Therapy1

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2021

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“…Plasma lyso-Gb3 levels at one year were stable with a tendency for reduction in both females (P=0.35) and males (P=0.20), while a reduction of GFR over the first year of treatment was seen [creatinine: 0.94 (IQR 0.81-1.09) vs. 1.0 (IQR 0.77-1.18); P=0.021] (61). Interestingly, at one year, enzyme increase in patients correlated with myocardial mass reduction (r=−0.546; P=0.044), but not with renal function (r=−0.086; P=0.770) (61,62).…”

Section: Chaperone Therapymentioning

confidence: 97%

Contemporary therapeutics and new drug developments for treatment of Fabry disease: a narrative review

Oder¹,

Müntze²,

Nordbeck³

2021

Cardiovasc Diagn Ther

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Fabry disease (FD; OMIM 301500) is an X-linked (Xq22.1) lysosomal storage disorder taking origin in enzyme deficiency of the α-galactosidase A (enzyme commission no. 3.2.1.22) (1). This results into accumulation of globotriaosylceramides (Gb3) and the derivative globotriaosylsphingosine (lyso-Gb3) in all lysosome carrying tissue. Clinically, phenotype expression is prominently accompanied by cardiac, renal and neurological impairments including young-aged cryptogenic stroke, chronic kidney disease, and a variant of hypertrophic

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Section: Chaperone Therapymentioning

confidence: 97%