Clinical trial NCT02363153: Diet and Exercise in Pompe Disease
Official title: A Pilot Study of Diet and Exercise Therapy in Pompe Disease
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Pompe Disease
Glycogen Storage Disease Type II
Lysosomal Storage Diseases
Lead sponsor: University of Florida
Sponsor class: OTHER
Collaborators: name: Amicus Therapeutics
First posted: 2015-02-13
Enrollment: 2
Sex: ALL
Minimum age (years): 15
Maximum age (years): 55
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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

Primary outcomes:
measure: Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)
timeFrame: Baseline, Month 4
measure: Change in FVC
timeFrame: Baseline, Month 4
measure: Change in overall QMT score
timeFrame: Baseline, Month 4
Secondary outcomes:
measure: Compliance to diet and exercise plans
timeFrame: Month 4
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida Clinical Research Center
state: Florida
Study officials:
affiliation: University of Florida
name: Manuela Corti, PT, PhD
role: PRINCIPAL_INVESTIGATOR
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