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Trial record 67 of 103 for:    Pompe Disease

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 : August 5, 2019
Sponsor:
Collaborator:
Amicus Therapeutics
Information provided by (Responsible Party):
University of Florida

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.

Condition or disease Intervention/treatment Phase
Pompe Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Other: Diet and Exercise Not Applicable

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.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 26 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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 2022
Estimated Study Completion Date : December 2022


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.





Primary Outcome Measures :
  1. 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

  2. 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

  3. Change in overall QMT score [ Time Frame: Baseline, Month 4 ]
    Quantitative muscle testing (QMT) measures peripheral muscle strength


Secondary Outcome Measures :
  1. 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



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Ages Eligible for Study:   15 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

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


Contacts
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Contact: Samantha Norman, MPH, BS 352-272-8218 samantha.norman@peds.ufl.edu
Contact: Manuela Corti, PT, PhD 352-294-5779 m.corti@ufl.edu

Locations
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United States, Florida
University of Florida Clinical Research Center Recruiting
Gainesville, Florida, United States, 32610
Contact: Samantha Norman, MPH, BS    352-273-8218    samantha.norman@peds.ufl.edu   
Contact: Gee Kim, BS    352-294-8283    geekim@ufl.edu   
Principal Investigator: Manuela Corti, PT, PhD         
Sub-Investigator: Barry Byrne, MD, PhD         
Sponsors and Collaborators
University of Florida
Amicus Therapeutics
Investigators
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Principal Investigator: Manuela Corti, PT, PhD University of Florida

Publications:
Scriver CR. The metabolic & molecular bases of inherited disease. 8th ed. ed. New York: McGraw-Hill; 2001.

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Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02363153     History of Changes
Other Study ID Numbers: IRB201400844
First Posted: February 13, 2015    Key Record Dates
Last Update Posted: August 5, 2019
Last Verified: August 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Metabolic Diseases
Glycogen Storage Disease
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors