Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
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We investigated the feasibility of using recombinant human acid-α 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.
Enzyme Replacement Therapy
Glycogen Storage Disease Type III
Published Version (Please cite this version)10.1016/j.ymgme.2012.12.002
Publication InfoSun, Baodong; Fredrickson, Keri; Austin, Stephanie; Tolun, Adviye A; Thurberg, Beth L; Kraus, William E; ... Kishnani, Priya S (2013). Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab, 108(2). pp. 145-147. 10.1016/j.ymgme.2012.12.002. Retrieved from https://hdl.handle.net/10161/15087.
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Professor of Pediatrics
1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysoosmal Storage Diseases (LSDs) like Pompe, Fabry, Gaucher, MPS - for early diagnosis and treatment modalities. Exploration of new high throughput diagnostic platforms with an idea of implementation into New born screening (NBS)of these diseases. 2)Clinical research studies associated with Pompe disease with a goal to imp
Professor Emeritus of Pediatrics
Our overall research interests are in translational research. We aim at translating the promise of genomic medicine into clinical reality. Specific projects at present time include: 1). Identification of novel genes/targets associated with human diseases. This includes susceptibility genes for common multi-factorial diseases and adverse drug reactions. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics and proteomics are some approaches that we use in identif
Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders witha special focus on Pompe disease, Down syndrome and hypophosphatasia2) The development of new therapies for genetic d
Richard and Pat Johnson University Distinguished Professor
My training, expertise and research interests range from human integrative physiology and genetics to animal exercise models to cell culture models of skeletal muscle adaptation to mechanical stretch. I am trained clinically as an internist and preventive cardiologist, with particular expertise in preventive cardiology and cardiac rehabilitation. My research training spans molecular biology and cell culture, molecular genetics, and integrative human exercise physiology and metabolism. I pr
Associate Professor of Pediatrics
My overall research interests are finding effective treatment for human glycogen storage diseases (GSDs) and other inherited metabolic disorders. My current research focuses on identification of novel therapeutic targets and development of effective therapies for GSD II (Pompe disease), GSD III (Cori disease), and GSD IV (Andersen disease) using cellular and animal disease models. The main therapeutic approaches we are using in our pre-clinical studie
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