Pompe Disease Clinical Trial
Official title:
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01942590 -
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
|
Phase 1/Phase 2 | |
| Not yet recruiting |
NCT01409486 -
Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
|
N/A | |
| Completed |
NCT00976352 -
Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
|
Phase 1/Phase 2 | |
| Recruiting |
NCT01665326 -
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
|
||
| Completed |
NCT01758354 -
Newborn Screening Assay of Pompe's Disease
|
N/A | |
| Recruiting |
NCT00231400 -
Pompe Disease Registry Protocol
|
||
| Recruiting |
NCT04476550 -
Clinical Specimen Collection From Pompe Disease Patients
|
||
| Recruiting |
NCT05687474 -
Baby Detect : Genomic Newborn Screening
|
||
| Completed |
NCT01380743 -
Drug-drug Interaction Study
|
Phase 2 | |
| Recruiting |
NCT05734521 -
Avalglucosidase Alfa Pregnancy Study
|
||
| Completed |
NCT02742298 -
Pompe Disease QMUS and EIM
|
N/A | |
| Terminated |
NCT02185651 -
A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction
|
Phase 1 | |
| Completed |
NCT02654886 -
Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
|
N/A | |
| Completed |
NCT02405598 -
Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
|
Phase 4 | |
| Completed |
NCT00701129 -
An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
|
Phase 4 | |
| Completed |
NCT01451879 -
Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
|
N/A | |
| Completed |
NCT02240407 -
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
|
Phase 1 | |
| Completed |
NCT05073783 -
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
|
||
| Active, not recruiting |
NCT04093349 -
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
|
Phase 1/Phase 2 | |
| Completed |
NCT01410890 -
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
|
Phase 4 |