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

共 50 条

[41] Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease
Kim, Il Young
Lee, Hyun Jung
Cheon, Chong Kun
KIDNEY RESEARCH AND CLINICAL PRACTICE, 2021, 40 (04) : 611 - 619
[42] The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease
Morell, Chantal F.
Clarke, Joe T. R.
EXPERT OPINION ON BIOLOGICAL THERAPY, 2009, 9 (05) : 631 - 639
[43] Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease
Kevin Mills
Ashok Vellodi
Peter Morris
Donald Cooper
Michael Morris
Elisabeth Young
Bryan Winchester
European Journal of Pediatrics, 2004, 163 : 595 - 603
[44] Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease
Mills, K
Vellodi, A
Morris, P
Cooper, D
Morris, M
Young, E
Winchester, B
EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (10) : 595 - 603
[45] Enzyme replacement therapy improves cardiac features and severity of Fabry disease
Motwani, Manish
Banypersad, Sanjay
Woolfson, Peter
Waldek, Stephen
MOLECULAR GENETICS AND METABOLISM, 2012, 107 (1-2) : 197 - 202
[46] Development of Lanzyme as the Potential Enzyme Replacement Therapy Drug for Fabry Disease
Deng, Mulan
Zhou, Hongyu
Liang, Zhicheng
Li, Zhaoyang
Wang, Yanping
Guo, Wanyi
Zhao, April Yuanyi
Li, Fanghong
Mu, Yunping
Zhao, Allan Zijian
BIOMOLECULES, 2023, 13 (01)
[47] Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease
Togawa, Tadayasu
Kawashima, Ikuo
Kodama, Takashi
Tsukimura, Takahiro
Suzuki, Toshihiro
Fukushige, Tomoko
Kanekura, Takuro
Sakuraba, Hitoshi
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2010, 399 (04) : 716 - 720
[48] Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
Abcde, Hsiang-Yu Lin
Huang, Yu-Hsiu
Liao, Hsuan-Chieh
Liu, Hao-Chuan
Hsu, Ting-Rong
Shen, Chia-I
Li, Shao-Tzu
Li, Cheng-Fang
Lee, Li-Hong
Lee, Pi-Chang
Huang, Chun-Kai
Chiang, Chuan-Chi
Lin, Shuan-Pei
Niu, Dau-Ming
JOURNAL OF THE CHINESE MEDICAL ASSOCIATION, 2014, 77 (04) : 190 - 197
[49] Clinical features and enzyme replacement therapy in 10 children with Fabry disease
Li, Qian
Wang, Jing
Tian, Minle
Yang, Zhenle
Yu, Lichun
Liu, Suwen
Wang, Cong
Wang, Xiaoyuan
Sun, Shuzhen
FRONTIERS IN PEDIATRICS, 2023, 11
[50] Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy
Suntjens, Eefje B.
Smid, Bouwien E.
Biegstraaten, Marieke
Dreschler, Wouter A.
Hollak, Carla E. M.
Linthorst, Gabor E.
JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (02) : 351 - 358

← 1 2 3 4 5 →