Diet and Exercise in Pompe Disease
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|ClinicalTrials.gov Identifier: NCT02363153|
Recruitment Status : Recruiting
First Posted : February 13, 2015
Last Update Posted : November 1, 2018
|Condition or disease||Intervention/treatment||Phase|
|Pompe Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases||Other: Diet and Exercise||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||26 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||A Pilot Study of Diet and Exercise Therapy in Pompe Disease|
|Actual Study Start Date :||November 6, 2017|
|Estimated Primary Completion Date :||October 2019|
|Estimated Study Completion Date :||December 2019|
Experimental: Diet and Exercise
Patients will be given an individualized diet and exercise plan by a physical therapist and registered dietician. The diet and exercise plan will be carried out by the participant for 16 weeks. The exercise plan, an aerobic and strength training regimen, will be performed under the supervision of a personal trainer or certified exercise physiologist that is local to the participant. The participant will complete core-stabilizing exercises which can be performed at home or in an approved group class. The participant will wear an activity tracker at all times during this 16 week period, and will be asked to manually enter data into a phone app, such as daily food intake and weight.
Other: Diet 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.
- Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL) [ Time Frame: Baseline, Month 4 ]The PROQOL assesses quality of life and health status to improve patient care
- 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
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02363153
|Contact: Samantha Norman, MPH, BSfirstname.lastname@example.org|
|Contact: Manuela Corti, PT, PhDemail@example.com|
|United States, Florida|
|University of Florida Clinical Research Center||Recruiting|
|Gainesville, Florida, United States, 32610|
|Contact: Samantha Norman, MPH, BS 352-273-8218 firstname.lastname@example.org|
|Contact: Gee Kim, BS 352-294-8283 email@example.com|
|Principal Investigator: Manuela Corti, PT, PhD|
|Sub-Investigator: Barry Byrne, MD, PhD|
|Principal Investigator:||Manuela Corti, PT, PhD||University of Florida|