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New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.

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Date
2021-07-30
Authors
Korlimarla, Aditi
Lim, Jeong-A
McIntosh, Paul
Zimmerman, Kanecia
Sun, Baodong D
Kishnani, Priya S
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Abstract
<h4>Background</h4>There are new emerging phenotypes in Pompe disease, and studies on smooth muscle pathology are limited. Gastrointestinal (GI) manifestations are poorly understood and underreported in Pompe disease.<h4>Methods</h4>To understand the extent and the effects of enzyme replacement therapy (ERT; alglucosidase alfa) in Pompe disease, we studied the histopathology (entire GI tract) in Pompe mice (GAAKO 6neo/6neo). To determine the disease burden in patients with late-onset Pompe disease (LOPD), we used Patient-Reported Outcomes Measurements Information System (PROMIS)-GI symptom scales and a GI-focused medical history.<h4>Results</h4>Pompe mice showed early, extensive, and progressive glycogen accumulation throughout the GI tract. Long-term ERT (6 months) was more effective to clear the glycogen accumulation than short-term ERT (5 weeks). GI manifestations were highly prevalent and severe, presented early in life, and were not fully amenable to ERT in patients with LOPD (n = 58; age range: 18-79 years, median age: 51.55 years; 35 females; 53 on ERT).<h4>Conclusion</h4>GI manifestations cause a significant disease burden on adults with LOPD, and should be evaluated during routine clinical visits, using quantitative tools (PROMIS-GI measures). The study also highlights the need for next generation therapies for Pompe disease that target the smooth muscles.
Type
Journal article
Subject
GAAKO mice
PROMIS–GI symptom scales
gastrointestinal
glycogen storage disorder
late-onset Pompe disease
patient-reported outcomes measures
smooth muscles
translational research
Permalink
https://hdl.handle.net/10161/24021
Published Version (Please cite this version)
10.3390/jcm10153395
Publication Info
Korlimarla, Aditi; Lim, Jeong-A; McIntosh, Paul; Zimmerman, Kanecia; Sun, Baodong D; & Kishnani, Priya S (2021). New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. Journal of clinical medicine, 10(15). pp. 3395-3395. 10.3390/jcm10153395. Retrieved from https://hdl.handle.net/10161/24021.
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

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
Korlimarla

Aditi Korlimarla

Medical Instructor in the Department of Pediatrics
This author no longer has a Scholars@Duke profile, so the information shown here reflects their Duke status at the time this item was deposited.
Sun

Baodong Sun

Associate Professor in 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
Zimmerman

Kanecia Obie Zimmerman

Professor of Pediatrics
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