Diet and Exercise in Pompe Disease

May 13, 2021 updated by: University of Florida

A Pilot Study of Diet and Exercise Therapy in Pompe Disease

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

2

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Florida
      • Gainesville, Florida, United States, 32610
        • University of Florida Clinical Research Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

15 years to 55 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Baseline, Month 4
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
Baseline, Month 4
Change in overall QMT score
Time Frame: Baseline, Month 4
Quantitative muscle testing (QMT) measures peripheral muscle strength
Baseline, Month 4

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Month 4

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Florida

Collaborators

Amicus Therapeutics

Investigators

  • Principal Investigator: Manuela Corti, PT, PhD, University of Florida

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 6, 2017

Primary Completion (Actual)

May 12, 2021

Study Completion (Actual)

May 12, 2021

Study Registration Dates

First Submitted

February 9, 2015

First Submitted That Met QC Criteria

February 9, 2015

First Posted (Estimate)

February 13, 2015

Study Record Updates

Last Update Posted (Actual)

May 14, 2021

Last Update Submitted That Met QC Criteria

May 13, 2021

Last Verified

May 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB201400844

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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