Development of Clinic Templates and Patient Resources for Multidisciplinary Pompe Disease Clinic
Start Date
April 2026
Location
3rd floor - Library
Abstract
Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by variants in the acid alpha-glucosidase (GAA) gene. Depending on the severity of GAA inactivation, patients present with either an infantile-onset form (infantile-onset Pompe disease or IOPD) with life-threatening cardiac involvement or a late-onset form (late-onset Pompe disease or LOPD) which can present at any time from childhood to adulthood. The care of patients with Pompe disease requires coordination among multiple medical specialists including genetics, pulmonary, cardiology, and physical therapy. To provide efficient and well-organized care, Cincinnati Children’s Hospital recently established a multidisciplinary Pompe disease clinic to allow patients to see the aforementioned specialties at the same visit. The goal of this project was to develop a portfolio of clinic templates in Epic for the six most frequent Pompe disease types seen in the clinic being new and returning visits for IOPD, LOPD pre-symptomatic, and LOPD symptomatic. These templates allow for routine and consistent patient care among the different specialties and routine collection of natural history over time. It will also enable better communication among the separate medical specialties by standardizing collected information. Additionally, resources were gathered for the patients and their families including family-friendly disease descriptions, research updates, and current clinical trials. Along with the other resources, further work on this project will eventually include the creation of patient and family surveys as well as the potential creation of a patient-provider advisory board to improve patient satisfaction and involvement.
Development of Clinic Templates and Patient Resources for Multidisciplinary Pompe Disease Clinic
3rd floor - Library
Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by variants in the acid alpha-glucosidase (GAA) gene. Depending on the severity of GAA inactivation, patients present with either an infantile-onset form (infantile-onset Pompe disease or IOPD) with life-threatening cardiac involvement or a late-onset form (late-onset Pompe disease or LOPD) which can present at any time from childhood to adulthood. The care of patients with Pompe disease requires coordination among multiple medical specialists including genetics, pulmonary, cardiology, and physical therapy. To provide efficient and well-organized care, Cincinnati Children’s Hospital recently established a multidisciplinary Pompe disease clinic to allow patients to see the aforementioned specialties at the same visit. The goal of this project was to develop a portfolio of clinic templates in Epic for the six most frequent Pompe disease types seen in the clinic being new and returning visits for IOPD, LOPD pre-symptomatic, and LOPD symptomatic. These templates allow for routine and consistent patient care among the different specialties and routine collection of natural history over time. It will also enable better communication among the separate medical specialties by standardizing collected information. Additionally, resources were gathered for the patients and their families including family-friendly disease descriptions, research updates, and current clinical trials. Along with the other resources, further work on this project will eventually include the creation of patient and family surveys as well as the potential creation of a patient-provider advisory board to improve patient satisfaction and involvement.
