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

[21] Rapamycin is a potential therapy for glycogen storage disease type III
Yi, Haiqing
Sun, Baodong
Fredrickson, Keri
Drake, Elizabeth
Thurberg, Beth
Fyfe, John
Corneliussen, Karen
Bali, Deeksha
Kishnani, Priya
MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) : 364 - 364
[22] AAV-Mediated Gene Therapy for Glycogen Storage Disease Type III Using a Bacterial Glycogen Debranching Enzyme
Lim, Jeong-A
Choi, Su Jin
Gao, Fengqin
Kishnani, Priya S.
Sun, Baodong
MOLECULAR THERAPY, 2020, 28 (04) : 307 - 308
[23] Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantileonset Pompe disease: A systematic review and metanalysis
Dornelles, Alicia D.
Schwartz, Ida Vanessa D.
MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
[24] Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Papadopoulos, Constantinos
Orlikowsld, David
Prigent, Helene
Lacour, Arnaud
Tard, Celine
Furby, Alain
Praline, Julien
Sole, Guilhem
Hogrel, Jean-Yves
De Antonio, Marie
Semplicini, Claudio
Deibener-Kaminsky, Joelle
Kaminsky, Pierre
Eymard, Bruno
Taouagh, Nadjib
Perniconi, Barbara
Hamroun, Dalil
Laforet, Pascal
Bassez, G.
Bedat-Millet, A. -L.
Behin, A.
Eymard, B.
Leonard -Louis, S.
Stojkovic, T.
Canal, A.
Decostre, V.
Bouhour, F.
Boyer, F.
Caillaud, C.
Castaing, Y.
Chapon, F.
Cintas, P.
Durieu, I.
Echaniz-Laguna, A.
Feasson, L.
Ferrer, X.
Froissart, R.
Piraud, M.
Germain, D.
Benistan, K.
Guffon-Fouilhoux, N.
Journel, H.
Labauge, P.
Levy, A.
Magot, A.
Pereon, Y.
Minot-Myhie, M-C
Nadaj-Pakleza, A.
Nathier, C.
Pellegrini, N.
MOLECULAR GENETICS AND METABOLISM, 2017, 122 (1-2) : 80 - 85
[25] Long-term enzyme replacement therapy with alglucosidase alfa in children and adults with late-onset Pompe disease
Theunissen, M.
van Kooten, H.
Harlaar, L.
Ismailova, G.
van den Hout, J.
Rizopoulos, D.
Boon, M.
Brusse, E.
van Doorn, P.
van der Ploeg, A.
van der Beek, N.
NEUROMUSCULAR DISORDERS, 2023, 33 : S150 - S150
[26] Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Papadopoulos, C.
Orlikowski, D.
Prigent, H.
Perniconi, B.
Taouagh, N.
Lacour, A.
Tard, C.
Furby, A.
Praline, J.
Sole, G.
Semplicini, C.
Kaminsky, P.
Eymard, B.
Hamroun, D.
Laforet, P.
NEUROMUSCULAR DISORDERS, 2016, 26 : S109 - S110
[27] COST-EFFECTIVENESS OF ENZYME REPLACEMENT THERAPY (ERT) WITH ALGLUCOSIDASE ALFA IN CLASSIC-INFANTILE PATIENTS WITH POMPE DISEASE
Kanters, T. A.
Plug, I
Rutten-van Molken, M. P. M. H.
Redekop, W.
Van der Ploeg, A. T.
Hakkaart, L.
VALUE IN HEALTH, 2013, 16 (07) : A384 - A384
[28] Enzyme replacement therapy in a patient with type III Gaucher disease
Carbajal-Rodriguez, Luis
Gomez-Gonzalez, Ma. Fernanda
Rodriguez-Herrera, Raymundo
Zarco-Roman, Jorge
Mora-Tiscareno, Ma. Antonieta
ACTA PEDIATRICA DE MEXICO, 2012, 33 (01): : 9 - 19
[29] TYPE-III GLYCOGEN STORAGE DISEASE WITH NORMAL ENZYME ACTIVITY IN ERYTHROCYTES
GUTMAN, A
AGAM, G
DECKELBAUM, R
ISRAEL JOURNAL OF MEDICAL SCIENCES, 1971, 7 (10): : 1212 - +
[30] 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
Regnery, Caroline
Kornblum, Cornelia
Hanisch, Frank
Vielhaber, Stefan
Strigl-Pill, Nicola
Grunert, Birgit
Mueller-Felber, Wolfgang
Glocker, Franz Xaver
Spranger, Matthias
Deschauer, Marcus
Mengel, Eugen
Schoser, Benedikt
JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 (05) : 837 - 845

← 1 2 3 4 5 →