Fabry disease biomarkers in patients switched from enzyme replacement therapy to migalastat oral chaperone therapy

被引：0

作者：

Auray-Blais, Christiane ^{[1
,2
]}

Lavoie, Pamela ^{[1
,2
]}

Martineau, Tristan ^{[1
,2
]}

Ntumba, Georges Kabala ^{[1
,2
]}

Gamrani, Mohamed ^{[1
,2
]}

Khan, Aneal ^{[3
]}

Altarescu, Gheona ^{[4
]}

Lehman, Anna ^{[5
]}

Goker-Alpan, Ozlem ^{[6
]}

Nowak, Albina ^{[7
,8
]}

West, Michael L. ^{[9
]}

Bichet, Daniel G. ^{[10
,11
]}

机构：

[1] Univ Sherbrooke, Ctr Rech CIUSSS, Dept Pediat, Div Med Genet, 3001,12th Ave North, Sherbrooke, PQ J1H 5N4, Canada

[2] Univ Sherbrooke, Estrie CHUS, 3001,12th Ave North, Sherbrooke, PQ J1H 5N4, Canada

[3] Univ Calgary, Cumming Sch Med, 3330 Hosp Dr NW, Calgary, AB T2N 4N1, Canada

[4] Shaare Zedek Med Ctr, Shmuel Hans Beyth St 12, IL-9103102 Jerusalem, Israel

[5] Univ British Columbia, Vancouver Gen Hosp, Dept Med Genet, 899 W 12th Ave, Vancouver, BC V5Z 1M9, Canada

[6] Lysosomal & Rare Disorders Res & Treatment Ctr LDR, 3702 Pender Dr STE 170, Fairfax, VA 22030 USA

[7] Univ Hosp Zurich, Dept Endocrinol & Clin Nutr, Ramistr 100, CH-8091 Zurich, Switzerland

[8] Univ Zurich, Ramistr 100, CH-8091 Zurich, Switzerland

[9] Dalhousie Univ, QE II Health Sci Ctr, Dept Med, Div Nephrol, 1276 South Pk St, Halifax, NS B3H 2Y9, Canada

[10] Univ Montreal, 5400 Boul Gouin O, Montreal, PQ H4J 1C5, Canada

[11] Hop Sacre Coeur Montreal, Res Ctr, Nephrol Serv, 5400 Boul Gouin O, Montreal, PQ H4J 1C5, Canada

来源：

BIOANALYSIS | 2023年 / 15卷 / 23期

关键词：

analogues; biomarkers; Fabry disease; globotriaosylceramide; globotriaosylsphingosine; migalastat; treatment switch; MULTIPLEX ANALYSIS; GB(3) ISOFORMS; AMENABILITY; PHENOTYPE; CHILDREN; PLASMA;

D O I：

10.4155/bio-2023-0160

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Background: A biomarker profile was evaluated longitudinally in patients with Fabry disease switched from enzyme replacement therapy (ERT) to migalastat. Methods: Sixteen Gb3 isoforms and eight lyso-Gb3 analogues were analyzed in plasma and urine by LC-MS/MS at baseline and at three different time points in naive participants and participants switching from either agalsidase alpha or beta to migalastat. Results: Twenty-nine adult participants were recruited internationally (seven centers). The Mainz Severity Score Index and mean biomarker levels remained stable (p >= 0.05) over a minimum of 12 months compared with baseline following the treatment switch. Conclusion: In this cohort of patients with Fabry disease with amenable mutations, in the short term, a switch from ERT to migalastat did not have a marked effect on the average biomarker profile. [GRAPHICS]

引用

页码：1421 / 1437

页数：17

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