Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

被引：15

作者：

Sun, Baodong ^{[1
]}

Fredrickson, Keri ^{[1
]}

Austin, Stephanie ^{[1
]}

Tolun, Adviye A. ^{[1
]}

Thurberg, Beth L. ^{[2
]}

Kraus, William E. ^{[3
,4
]}

Bali, Deeksha ^{[1
]}

Chen, Yuan-Tsong ^{[1
]}

Kishnani, Priya S. ^{[1
]}

机构：

[1] Duke Univ Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

[2] Genzyme, Dept Pathol, Framingham, MA USA

[3] Duke Univ Med Ctr, Dept Cell Biol, Durham, NC USA

[4] Duke Univ Med Ctr, Dept Med, Durham, NC USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2013年 / 108卷 / 02期

关键词：

Alglucosidase alfa; Glycogen storage disease type III; Glycogen degradation; Primary skeletal muscle culture; Novel therapy; POMPE-DISEASE; MUSCLE; METABOLISM; MODEL;

D O I：

10.1016/j.ymgme.2012.12.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We investigated the feasibility of using recombinant human acid-alpha glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts from skeletal muscle biopsies of patients with GSD IIIa. We demonstrated that rhGAA significantly reduced glycogen levels in the two GSD IIIa patients' muscle cells (by 17% and 48%, respectively) suggesting that rhGAA could be a novel therapy for GSD III. This conclusion needs to be confirmed in other in vivo models. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：145 / 147

页数：3

共 50 条

[31] Reduced glycogen storage in lymphocytes in patients with Pompe disease following enzyme replacement therapy
Van Oudheusden, L. J.
ACTA PAEDIATRICA, 2008, 97 : 121 - 122
[32] Correction of Glycogen Storage Disease Type III with an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme
Lim, Jeong-A
Choi, Su Jin
Gao, Fengqin
Kishnani, Priya
Sun, Baodong
MOLECULAR THERAPY, 2019, 27 (04) : 17 - 17
[33] Glycogen Storage Disease Type III with Hypoketosis
Clemente, Maria
Gussinyer, Miguel
Antonio Arranz, Jose
Riudor, Encarnacio
Yeste, Diego
Albisu, Marian
Carrascosa, Antonio
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2010, 23 (08): : 833 - 836
[34] Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy
Marzorati, Mauro
Porcelli, Simone
Bellistri, Giuseppe
Morandi, Lucia
Grassi, Bruno
NEUROMUSCULAR DISORDERS, 2012, 22 : S230 - S234
[35] Pregnancy during enzyme replacement therapy with alglucosidase alfa over a 14-year period in late-onset Pompe disease
Yanagihara, Chie
Hayasaka, Yuki
Kageyama, Yasufumi
NEUROLOGY AND CLINICAL NEUROSCIENCE, 2023, 11 (02): : 97 - 99
[36] Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
Dornelles, A. D.
Junges, A. P. P.
Krug, B.
Goncalves, C.
de Oliveira Junior, H. A.
Schwartz, I. V. D.
FRONTIERS IN PEDIATRICS, 2024, 12
[37] Strategy to assess the effect of duvoglustat co-administered with alglucosidase alfa infusion on the immune response to enzyme replacement therapy for Pompe disease
Benjamin, Elfrida R.
Wu, Xiaoyang
Della Valle, M. Cecilia
Sjoberg, Eric
Sitaraman, Sheela
Stevens, Anthony
Gome, Nestor
Katz, Evan
Pruthi, Farhana
Kelley, Jeffry S.
Wustman, Brandon
Valenzano, Kenneth J.
Burne, Barry J.
Barlow, Carrolee
Lockhart, David J.
MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S25 - S25
[38] CORNSTARCH THERAPY IN A PATIENT WITH TYPE-III GLYCOGEN-STORAGE-DISEASE
BOROWITZ, SM
GREENE, HL
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1987, 6 (04): : 631 - 634
[39] EFFICACY OF CORNSTARCH THERAPY IN TYPE-III GLYCOGEN-STORAGE DISEASE
GREMSE, DA
BUCUVALAS, JC
BALISTRERI, WF
CLINICAL RESEARCH, 1988, 36 (06): : A901 - A901
[40] EFFICACY OF CORNSTARCH THERAPY IN TYPE-III GLYCOGEN-STORAGE-DISEASE
GREMSE, DA
BUCUVALAS, JC
BALISTRERI, WF
AMERICAN JOURNAL OF CLINICAL NUTRITION, 1990, 52 (04): : 671 - 674

← 1 2 3 4 5 →