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Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

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Date
2014-05
Authors
Koeberl, Dwight D
Austin, Stephanie
Case, Laura E
Smith, Edward C
Buckley, Anne F
Young, Sarah P
Bali, Deeksha
Kishnani, Priya S
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(8 total)
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Abstract
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.
Type
Journal article
Subject
acid maltase
acid α-glucosidase
glycogen storage disease type II
mannose-6-phosphate receptor
Adrenergic beta-2 Receptor Agonists
Albuterol
Biopsy
Electrocardiography
Enzyme Replacement Therapy
Female
Glycogen Storage Disease Type II
Hand Strength
Humans
Male
Muscle, Skeletal
Pilot Projects
Quadriceps Muscle
Receptor, IGF Type 2
Time Factors
Treatment Outcome
Walking
Permalink
https://hdl.handle.net/10161/10804
Published Version (Please cite this version)
10.1096/fj.13-241893
Publication Info
Koeberl, Dwight D; Austin, Stephanie; Case, Laura E; Smith, Edward C; Buckley, Anne F; Young, Sarah P; ... Kishnani, Priya S (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.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Bali

Deeksha Sarihyan Bali

Professor of Pediatrics
1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysosomal 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 improve
Buckley

Anne Frances Buckley

Associate 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.

Laura Elizabeth Case

Associate Professor in Orthopaedic Surgery
Laura E Case, PT, DPT, MS, PCS, C/NDT is a board-certified clinical specialist in pediatric physical therapy. She has dedicated her career to teaching, research in childhood-onset neuromusculoskeletal disorders, and to the lifelong treatment of people with childhood-onset neurological and neuromuscular disorders such as cerebral palsy, traumatic brain injury, Duchenne muscular dystrophy, spinal muscular atrophy, Pompe disease, myelodysplasia, juvenile rheumatoid arthriti
Kishnani

Priya Sunil Kishnani

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 with a special focus on Pompe disease, Down syndrome and hypophosphatasia2) ) The development of new therapies such
Koeberl

Dwight D. Koeberl

Professor of Pediatrics
As a physician-scientist practicing clinical and biochemical genetics, I am highly motivated to seek improved therapy for my patients with inherited disorders of metabolism. 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
Smith

Edward Clinton Smith

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
Young

Sarah Phyllis Young

Professor of Pediatrics
As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel ther
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