Working… Menu
Trial record 41 of 106 for:    Pompe Disease

Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. (ExercisPompe)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02654886
Recruitment Status : Completed
First Posted : January 13, 2016
Last Update Posted : September 26, 2019
Information provided by (Responsible Party):
Virginia Kimonis, University of California, Irvine

Brief Summary:
The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease. This is a research study to further define the outcome of patients with Pompe disease treated with a combined diet and exercise therapy.

Condition or disease Intervention/treatment Phase
Pompe Disease Muscle Weakness Other: Resistance Exercise Training Not Applicable

Detailed Description:

Eligibility: Subjects that are age 16 years or older, have been diagnosed with Pompe disease by genetic testing, and are showing symptoms such as muscle weakness

Time Commitment:

The study will last for 8 months. This study consists of a baseline visit of and return visits at week 9, week 16, week 24, and week 32. At the week 9 visit the subject will be given an individualized exercise plan which will be carried out over the next 24 weeks. The subject will be asked to return for three more visits at week16, week 24 and week 32. The 24 week training period will involve 3 workouts a week approximately 15-30 minutes each. It will also involve a breathing exercise that the subject can do at home twice daily for 10-15 minutes per session. The study visits will include the exercise plan, physical exam, blood draw and questionnaires.

Anticipated Benefits:

The possible benefits include a delay in progression of muscle weakness. The knowledge gained from this study will help researchers understand the effect of exercise on the disease. This may eventually lead to new forms of prevention of symptom onset in the future.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study
Actual Study Start Date : October 2015
Actual Primary Completion Date : August 6, 2018
Actual Study Completion Date : September 24, 2019

Arm Intervention/treatment
Experimental: Resistance Exercise Training
Participants will be given a regimen of resistance training after a 2 month observation period. Participants will be trained for 6 months (total= 72 training sessions). Two muscle groups (limbs) would be included in the resistance-training program. Participants will also be initiated with Respiratory muscle strength training using pressure-threshold respiratory trainers.
Other: Resistance Exercise Training

Resistance Exercise Training: knee extension and elbow flexion each 3 times per week 3 sets each session; 10 reps/set for 6 months

Respiratory muscle strength training: 25 repetitions -twice daily, 6 days/week for 6 months

Primary Outcome Measures :
  1. Isometric muscle strength change from week 8 through week 32 [ Time Frame: Eight months ]

Secondary Outcome Measures :
  1. 6 Minute Walk Test change from week 8 through week 32 [ Time Frame: Eight months ]
  2. Maximum Inspiratory Pressures percent change from week 8 through week 32 [ Time Frame: Eight months ]
  3. MRC score change from week 8 through week 32 [ Time Frame: Eight months ]
  4. Muscle volume and texture change from week 8 through week 32 using MR Imaging [ Time Frame: Eight months ]
  5. Glycogen content change in quadriceps muscle from week 8 through week 32 [ Time Frame: Eight months ]
  6. GAA enzyme activity change from week 8 through week 32 [ Time Frame: Eight months ]
  7. HEX4 change from week 8 through week 32 [ Time Frame: Eight months ]
  8. Other spirometry parameters change from week 8 through week 32 [ Time Frame: Eight months ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   16 Years to 75 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Able to fully consent to the protocol.
  2. Physically able to perform resistance exercises for 12 weeks.
  3. Patients with a confirmed diagnosis of Pompe disease.
  4. Age 16 years to 75 years.
  5. Currently receiving ERT.
  6. Patient on ERT for at least 1year.

Exclusion Criteria:

  1. Patients with no confirmed diagnosis of Pompe disease, either by GAA enzyme deficiency from any tissue and/or molecular testing revealing two GAA gene mutations
  2. Unable to walk or cycle
  3. Unable to consent to the study/ procedures
  4. Women who are pregnant or breastfeeding
  5. Heart disease
  6. Patients with any metal inside their body such as metallic clips used for vascular repairs and/or implanted devices such as cardiac pacemakers which would prevent them from doing the MRI.

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 identifier (NCT number): NCT02654886

Layout table for location information
United States, California
UCI ICTS (Institute for Clinical and Translational Science)
Irvine, California, United States, 92697
Sponsors and Collaborators
University of California, Irvine
Layout table for investigator information
Principal Investigator: Virginia Kimonis, MD MRCP University of California, Irvine


Layout table for additonal information
Responsible Party: Virginia Kimonis, Professor, University of California, Irvine Identifier: NCT02654886     History of Changes
Other Study ID Numbers: HS# 2013-9365
First Posted: January 13, 2016    Key Record Dates
Last Update Posted: September 26, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data will be made available to partcipants after data is published in a peer reviewed journal.
Keywords provided by Virginia Kimonis, University of California, Irvine:
Pompe disease
Additional relevant MeSH terms:
Layout table for MeSH terms
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Muscular Diseases
Musculoskeletal Diseases
Muscle Weakness
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Neuromuscular Manifestations
Neurologic Manifestations
Pathologic Processes
Signs and Symptoms