An Exercise Pilot Study with Pompe Disease - The Kimonis Lab at UCI School of Medicine
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Pompe disease is a rare inherited progressive autosomal recessive neuromuscular disorder associated with muscle weakness and respiratory insufficiency that can affect all ages, ethnicities, and gender. While the enzyme replacement therapy (ERT) became clinically available and works very well in the cardiac muscle of patients who present in infancy with large hearts due to excessive glycogen storage, it is not as effective in patients who present after infancy with muscle weakness. Stabilization or some improvement has been seen in patients with a later onset, it is worthwhile to investigate other therapies that may slow the progression of their condition and improve quality of life. In this context, exercise/physical activity seems like an obvious choice, because activities like resistance training (RT) are known to be anabolic and produce muscle hypertrophy and improved muscle function in normal individuals. Somewhat shockingly very little is known about the role of physical activity in mitigating the muscle atrophy associated with Pompe disease. To our knowledge, previous studies have not examined the therapeutic efficacy of using RT to blunt/prevent the loss of muscle mass and function in patients with Pompe disease. Hence, the goal of our project is to evaluate and document potential benefits of RT in compliant patients and describe the benefit of combining enzyme replacement therapy (ERT) with RT. In the second aim of our study we will be testing and measuring patient respiratory function. We propose analyzing the activity level of the subjects between the baseline period and the exercise study with a health and exercise monitoring device/activity tracker. Our findings were that the exercise had an overall increase in muscle and respiratory strength for our patients.