Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
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Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previously demonstrated the benefit of increased CI-MPR-mediated uptake of recombinant human acid-α-glucosidase during ERT in mice with Pompe disease following addition of albuterol therapy. Currently we have completed a pilot study of albuterol in patients with late-onset Pompe disease already on ERT for >2 yr, who were not improving further. The 6-min walk test (6MWT) distance increased in all 7 subjects at wk 6 (30±13 m; P=0.002), wk 12 (34±14 m; P=0.004), and wk 24 (42±37 m; P=0.02), in comparison with baseline. Grip strength was improved significantly for both hands at wk 12. Furthermore, individual subjects reported benefits; e.g., a female patient could stand up from sitting on the floor much more easily (time for supine to standing position decreased from 30 to 11 s), and a male patient could readily swing his legs out of his van seat (hip abduction increased from 1 to 2+ on manual muscle testing). Finally, analysis of the quadriceps biopsies suggested increased CI-MPR at wk 12 (P=0.08), compared with baseline. With the exception of 1 patient who succumbed to respiratory complications of Pompe disease in the first week, only mild adverse events have been reported, including tremor, transient difficulty falling asleep, and mild urinary retention (requiring early morning voiding). Therefore, this pilot study revealed initial safety and efficacy in an open label study of adjunctive albuterol therapy in patients with late-onset Pompe disease who had been stable on ERT with no improvements noted over the previous several years.
glycogen storage disease type II
Adrenergic beta-2 Receptor Agonists
Enzyme Replacement Therapy
Glycogen Storage Disease Type II
Receptor, IGF Type 2
Published Version (Please cite this version)10.1096/fj.13-241893
Publication InfoAustin, S; Bali, Deeksha Sarihyan; Buckley, Anne Frances; Case, Laura Elizabeth; Kishnani, Priya Sunil; Koeberl, Dwight D; ... Young, SP (2014). Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J, 28(5). pp. 2171-2176. 10.1096/fj.13-241893. Retrieved from https://hdl.handle.net/10161/10804.
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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
Assistant Professor of Pathology
My basic research focus is on neurogenic stem cells and their involvement in brain development and brain tumors. I work in mouse models using inducible in vivo genetic systems, live imaging, and tissue culture, in addition to histological and biochemical methods. My clinical research interests include neuromuscular diseases. I collaborate with colleagues at Duke on basic and translational research in this area.
Associate Professor of Orthopaedic Surgery
Chen Family 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 2) The development of new therapies for genetic disorders through translational research 3) The development and execution of large multicenter trials to confirm safety and efficacy of potential th
Professor of Pediatrics
The focus of our research has been the development of gene therapy with adeno-associated virus (AAV) vectors, most recently by genome editing with CRISPR/Cas9. We have developed gene therapy for inherited disorders of metabolism, especially glycogen storage disease (GSD) and phenylketonuria (PKU). 1) GSD type Ia: Glucose-6-phosphatase (G6Pase) deficient animals provide models for developing new therapy for GSD type Ia, although early mortality complicates research with both
Associate Professor of Pediatrics
My clinical research interests focus on neuromuscular diseases. Neuromuscular diseases are a large group of disorders with various causes sharing one common feature: weakness. One large group of neuromuscular diseases is caused by abnormalities in the nerves as they exit the brain stem and spinal cord and travel out to their respective muscles. These are called “neuropathies.” Common examples in this group include spinal muscular
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