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Diet and Exercise in Pompe Disease

Primary Purpose

Pompe Disease, Glycogen Storage Disease Type II, Lysosomal Storage Diseases

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Diet and Exercise
Sponsored by
University of Florida
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Pompe Disease

Eligibility Criteria

15 Years - 55 Years (Child, Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • University of Florida Clinical Research Center

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Diet and Exercise

Arm Description

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.

Outcomes

Primary Outcome Measures

Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)
The PROQOL assesses quality of life and health status to improve patient care
Change in FVC
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
Quantitative muscle testing (QMT) measures peripheral muscle strength

Secondary Outcome Measures

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

Full Information

First Posted
February 9, 2015
Last Updated
May 13, 2021
Sponsor
University of Florida
Collaborators
Amicus Therapeutics
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1. Study Identification

Unique Protocol Identification Number
NCT02363153
Brief Title
Diet and Exercise in Pompe Disease
Official Title
A Pilot Study of Diet and Exercise Therapy in Pompe Disease
Study Type
Interventional

2. Study Status

Record Verification Date
May 2021
Overall Recruitment Status
Completed
Study Start Date
November 6, 2017 (Actual)
Primary Completion Date
May 12, 2021 (Actual)
Study Completion Date
May 12, 2021 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University of Florida
Collaborators
Amicus Therapeutics

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe Disease, Glycogen Storage Disease Type II, Lysosomal Storage Diseases

7. Study Design

Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
2 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Diet and Exercise
Arm Type
Experimental
Arm Description
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.
Intervention Type
Other
Intervention Name(s)
Diet and Exercise
Intervention Description
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.
Primary Outcome Measure Information:
Title
Change in results of Brief Patient-Reported Outcomes Quality of Life (PROQOL)
Description
The PROQOL assesses quality of life and health status to improve patient care
Time Frame
Baseline, Month 4
Title
Change in FVC
Description
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
Time Frame
Baseline, Month 4
Title
Change in overall QMT score
Description
Quantitative muscle testing (QMT) measures peripheral muscle strength
Time Frame
Baseline, Month 4
Secondary Outcome Measure Information:
Title
Compliance to diet and exercise plans
Description
Patients will be evaluated on their compliance to the diet and exercise plan they are assigned, by comparing activities assigned vs. activities completed
Time Frame
Month 4

10. Eligibility

Sex
All
Minimum Age & Unit of Time
15 Years
Maximum Age & Unit of Time
55 Years
Accepts Healthy Volunteers
No
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Manuela Corti, PT, PhD
Organizational Affiliation
University of Florida
Official's Role
Principal Investigator
Facility Information:
Facility Name
University of Florida Clinical Research Center
City
Gainesville
State/Province
Florida
ZIP/Postal Code
32610
Country
United States

12. IPD Sharing Statement

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Diet and Exercise in Pompe Disease

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