Diet and Exercise in Pompe Disease

Pompe is a rare disease, which occurs in approximately 1 in 40,000 births. It is a
progressive and often fatal neuromuscular disorder resulting from a mutation in the gene for
acid alpha- glucosidase (GAA), an enzyme necessary for the degradation of glycogen. Common
symptoms include skeletal and smooth muscle myopathy, resulting in respiratory insufficiency,
peripheral muscle weakness and generalized fatigue.

The progressive myopathy in Pompe disease seems to be influenced by increased muscle protein
breakdown. The increased muscle protein breakdown leads to muscle wasting, weakness,
increased resting energy expenditure and, consequently, increased fatigue. Our hypothesis is
that a high protein, low carbohydrate diet associated with regular physical exercise will
improve respiratory and peripheral muscle functions in Pompe disease.

In this study, we will investigate the effects of 16 weeks of planned diet and exercise in
adolescent and young adult (15-55 years old) individuals with Pompe disease using an activity
tracker.

The participant will be asked to come to the University of Florida 4 times throughout the
study (screening, baseline, +/- 15 days of completing the diet and exercise plan and a follow
up three months later) for exercise testing, quality of life questionnaires, respiratory
function testing and blood draws.

Inclusion Criteria:

- Male or female subjects 15-55 years of age;

- Have a diagnosis of Pompe disease, as defined by protein assay and/or DNA sequence of
the acid alpha-glucosidase gene, with present clinical symptoms of the disease;

- Be naïve to ERT or receiving ERT for at least eighteen months prior to beginning
study;

- Be able to walk at least 40m in the 6 minute walk test.

- Willing to comply with study requirements

Exclusion Criteria:

- Be pregnant;

- Be in the lower limit for pulmonary function; FVC < 30% predicted;

- Be dependent on assisted ventilation;

- Be dependent on wheelchair;

- Have evidence of clinical heart failure;

- Have any contraindication to exercise