Glycogen Storage Disease Type II, Lysosomal Storage Diseases, Pompe Disease
Conditions
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 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.
Detailed 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.
Interventions
OTHERDiet and Exercise
Exercise will consist of 2x/week aerobic exercise, 2x/week strength training and 1x/week core-stabilizing exercise. Diet will be constructed so that 30% of the daily caloric goal will be protein, 35% fat, and 35% carbohydrates.
Sponsors
Amicus Therapeutics
University of Florida
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
15 Years to 55 Years
Healthy volunteers
No
Inclusion criteria
* Male or female subjects 15-55 years of age; * Have a diagnosis of Pompe disease, as defined by protein assay and/or DNA sequence of the acid alpha-glucosidase gene, with present clinical symptoms of the disease; * Be naïve to ERT or receiving ERT for at least eighteen months prior to beginning study; * Be able to walk at least 40m in the 6 minute walk test. * Willing to comply with study requirements
Exclusion criteria
* Be pregnant; * Be in the lower limit for pulmonary function; FVC \< 30% predicted; * Be dependent on assisted ventilation; * Be dependent on wheelchair; * Have evidence of clinical heart failure; * Have any contraindication to exercise
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL) | Baseline, Month 4 | The PROQOL assesses quality of life and health status to improve patient care |
| Change in FVC | 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 | Baseline, Month 4 | Quantitative muscle testing (QMT) measures peripheral muscle strength |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Compliance to diet and exercise plans | 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 |
Countries
United States
Outcome results
None listed