Pompe disease and exercise therapy

HS 2013-9365
Pompe disease, Pediatric
Virginia Kimonis, MD
UC Irvine Institute for Clinical and Translational Science, Irvine campus

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 who are treated with a combination of diet, enzyme replacement treatment and exercise therapy.

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

The study commitment is for eight (8) months. This study consists of a baseline visit of six (6) hours and return visits at week 9, week 16, week 24 and week 32 for approximately 4-6 hours. At the week 9 visit, the subject is given an individualized exercise plan that will be carried out over the next 24 weeks. The subject is then asked to return for three (3) more visits at week 16, week 24 and week 32 for about 4-6 hours each.

The 24-week training period involves three (3) workouts a week of approximately 15-30 minutes each. It also involves 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, a blood draw and questionnaires.

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.

Compensation is $50 per visit, for a total of $250 for the study. Subjects can be reimbursed for six (6) months of gym membership.

Enzyme replacement therapy, Exercise therapy
Claudia Shambauch, study coordinator