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

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

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.

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.

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.

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

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.

Individual participant data will be made available to partcipants after data is published in a peer reviewed journal.

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