New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.
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 articleSubject
GAAKO micePROMIS–GI symptom scales
gastrointestinal
glycogen storage disorder
late-onset Pompe disease
patient-reported outcomes measures
smooth muscles
translational research
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https://hdl.handle.net/10161/24021Published Version (Please cite this version)
10.3390/jcm10153395Publication 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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Show full item recordScholars@Duke
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
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.
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
Kanecia Obie Zimmerman
Professor of Pediatrics
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