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Previous Studies 

Pompe Disease and Exercise Therapy 

Lead Researcher:  Virginia Kimonis, MD 

  • Division of Genetics and Metabolism, Professor of Pediatrics, University of California, Irvine (UCI).  
  • (949) 824-0571, 24 Hour Telephone: (714) 506-2063 (Pager)Email:

Study Coordinator: Claudia Shambaugh:

  • Phone: (949) 824-0521,                                                

Study Location: University of California, Irvine Institute for Clinical and Translational Science (ICTS)

Purpose of the 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, enzyme replacement treatment, 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 6 hours and returns visits at week 9, week 16, week 24, and week 32 for approximately 4-6 hours. At 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 for approximately 4-6 hours each.  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 the 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: $50.00 per visit, $250 total for the study.

Reimbursement: 6 months of reimbursement of a gym membership.

Wolman disease / Lysosomal acid lipase disease

We are involved with a study that is evaluating therapy for a storage disorder described as lysosomal acid lipase (LAL) deficiency.

This condition may appear at any age, but an early onset form (Wolman disease) has a particularly severe presentation and outcome. Lysosomal acid lipase (LAL) deficiency is a rare genetic disease with significant morbidity and early mortality. Specifically, LAL deficiency is an autosomal recessive lysosomal storage disorder that results in a marked decrease in the activity of the enzyme lysosomal acid lipase, which leads to lipid (cholesterylesters and triglycerides) accumulation in various tissues and cell types. 

The early-onset form of LAL deficiency has a reported incidence of two births per million in a general population, although it could be as high as 238 per million in certain groups such as the Persian Jewish population of Los Angeles. Most babies born with the early-onset form of LAL deficiency (Wolman disease) appear healthy at birth and before three months of age develop persistent vomiting, diarrhea, abdominal distension, and failure to thrive. The disease is rapidly progressive and has nearly 100 percent mortality in the first year of life.

UC Irvine Health and Synageva BioPharma are conducting a clinical trial investigating an enzyme replacement therapy for early-onset LAL deficiency. Families can also contact the Wolman Family Support Group.