Diet and Exercise in Pompe Disease

Pompe Disease Clinical Trial

Official title: A Pilot Study of Diet and Exercise Therapy in Pompe Disease

Status Completed

Clinical Trial Summary

This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease. Subjects will be given a diet and exercise plan based on their individual needs, which will be followed for 16 weeks. Participants will also be provided with an activity tracker in order to track their exercise activities, access to an app that will allow them to input their daily food intake, and they will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.

Clinical Trial Description

Pompe is a rare disease, which occurs in approximately 1 in 40,000 births. It is a progressive and often fatal neuromuscular disorder resulting from a mutation in the gene for acid alpha- glucosidase (GAA), an enzyme necessary for the degradation of glycogen. Common symptoms include skeletal and smooth muscle myopathy, resulting in respiratory insufficiency, peripheral muscle weakness and generalized fatigue. The progressive myopathy in Pompe disease seems to be influenced by increased muscle protein breakdown. The increased muscle protein breakdown leads to muscle wasting, weakness, increased resting energy expenditure and, consequently, increased fatigue. Our hypothesis is that a high protein, low carbohydrate diet associated with regular physical exercise will improve respiratory and peripheral muscle functions in Pompe disease. In this study, we will investigate the effects of 16 weeks of planned diet and exercise in adolescent and young adult (15-55 years old) individuals with Pompe disease using an activity tracker. The participant will be asked to come to the University of Florida 4 times throughout the study (screening, baseline, +/- 15 days of completing the diet and exercise plan and a follow up three months later) for exercise testing, quality of life questionnaires, respiratory function testing and blood draws. ;

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Lysosomal Storage Diseases
• Metabolic Diseases
• Pompe Disease

• NCT number: NCT02363153
• Study type: Interventional
• Source: University of Florida
• Status: Completed
• Phase: N/A
• Start date: November 6, 2017
• Completion date: May 12, 2021