Clinical Trial: Diet and Exercise in Pompe Disease

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Interventional

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

Brief 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, such as a FitBit or Apple Watch, in order to track their diet and exercise activities, and will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.

Detailed Summary:

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 (15-60 years old) individuals with Pompe disease using an activity tracker.


Sponsor: University of Florida

Current Primary Outcome:

  • Change in results of SF-36 Health Survey [ Time Frame: Baseline, Month 4 ]
    The SF-36 assesses quality of life and health status
  • Change in FVC [ Time Frame: Baseline, Month 4 ]
    Forced Vital Capacity (FVC) is the amount of air that can be forcefully exhaled after a full inspiration, and is an indicator of overall respiratory function
  • Change in overall QMT score [ Time Frame: Baseline, Month 4 ]
    Quantitative muscle testing (QMT) measures peripheral muscle strength


Original Primary Outcome: Same as current

Current Secondary Outcome: Compliance to diet and exercise plans [ Time Frame: Month 4 ]

Patients will be evaluated on their compliance to the diet and exercise plan they are assigned, by comparing activities assigned vs. activities completed


Original Secondary Outcome: Same as current

Information By: University of Florida

Dates:
Date Received: February 9, 2015
Date Started: June 2017
Date Completion: December 2017
Last Updated: April 10, 2017
Last Verified: April 2017