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

Study Overview
=================
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.

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.

Official Title
-----------------
Safety and Effectiveness of Resistance Exercise Training in Patients With Late Onset Pompe Disease- A Pilot Study

Conditions
-----------------
Pompe Disease, Muscle Weakness

Intervention / Treatment
-----------------
* Other: Resistance Exercise Training


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Able to fully consent to the protocol. Physically able to perform resistance exercises for 12 weeks. Patients with a confirmed diagnosis of Pompe disease. Age 16 years to 75 years. Currently receiving ERT. Patient on ERT for at least 1year. Exclusion Criteria: 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 Unable to walk or cycle Unable to consent to the study/ procedures Women who are pregnant or breastfeeding Heart disease 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.

Ages Eligible for Study
-----------------
Minimum Age: 16 Years
Maximum Age: 75 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Resistance Exercise Training<br>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<br>* 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<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Isometric muscle strength change from week 8 through week 32 |  | Eight months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 6 Minute Walk Test change from week 8 through week 32 |  | Eight months | 
| Maximum Inspiratory Pressures percent change from week 8 through week 32 |  | Eight months | 
| MRC score change from week 8 through week 32 |  | Eight months | 
| Muscle volume and texture change from week 8 through week 32 using MR Imaging |  | Eight months | 
| Glycogen content change in quadriceps muscle from week 8 through week 32 |  | Eight months | 
| GAA enzyme activity change from week 8 through week 32 |  | Eight months | 
| HEX4 change from week 8 through week 32 |  | Eight months | 
| Other spirometry parameters change from week 8 through week 32 |  | Eight months | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
exercise, Pompe disease, Pompe