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Article

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

1
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
2
Department of Neurology, Duke University Medical Center, Durham, NC 27710, USA
3
Duke Clinical Research Institute, Durham, NC 27710, USA
*
Authors to whom correspondence should be addressed.
Academic Editors: Karolina M. Stepien, Christian J. Hendriksz and Gregory M. Pastores
J. Clin. Med. 2021, 10(15), 3395; https://doi.org/10.3390/jcm10153395
Received: 24 May 2021 / Revised: 22 July 2021 / Accepted: 28 July 2021 / Published: 30 July 2021
Background: 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. Methods: 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. Results: 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). Conclusion: 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. View Full-Text
Keywords: late-onset Pompe disease; gastrointestinal; smooth muscles; PROMIS–GI symptom scales; GAAKO mice; glycogen storage disorder; translational research; patient-reported outcomes measures late-onset Pompe disease; gastrointestinal; smooth muscles; PROMIS–GI symptom scales; GAAKO mice; glycogen storage disorder; translational research; patient-reported outcomes measures
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MDPI and ACS Style

Korlimarla, A.; Lim, J.-A.; McIntosh, P.; Zimmerman, K.; Sun, B.D.; Kishnani, P.S. New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. J. Clin. Med. 2021, 10, 3395. https://doi.org/10.3390/jcm10153395

AMA Style

Korlimarla A, Lim J-A, McIntosh P, Zimmerman K, Sun BD, Kishnani PS. New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. Journal of Clinical Medicine. 2021; 10(15):3395. https://doi.org/10.3390/jcm10153395

Chicago/Turabian Style

Korlimarla, Aditi, Jeong-A Lim, Paul McIntosh, Kanecia Zimmerman, Baodong D. Sun, and Priya S. Kishnani 2021. "New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside" Journal of Clinical Medicine 10, no. 15: 3395. https://doi.org/10.3390/jcm10153395

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