Investigating the Prevalence of Type II Glycogen-Storage Disease (Pompe Disease)

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"The study team hopes to learn more about how common Pompe disease truly is."
Age: 8 years or older
Healthy Volunteers: No
Keywords: Pompe Disease
Type: Other Study
115 Participants
The study team hopes to learn more about the true occurrence of Pompe disease. Pompe disease is a rare genetic disease of the muscles. The results of this study will be compared to previous studies about the genetic occurrence of this disease.

Type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. It is most common within the African American population, with an incidence of 1 in 14,000. In the U.S. more broadly speaking, the combined frequency of the three varieties of the disease is 1 in 40,000.

Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. Individuals with Pompe disease have a deficiency in the activity of an enzyme called GAA (acid alpha glucosidase). GAA normally breaks down a complex sugar called glycogen into a simpler sugar called glucose. Glucose is the main energy source for most cells.

For this study, a 4mL blood sample will be analyzed. The study team will look for low GAA enzyme activity.
This study requires

If you qualify take part in the study, the following study-related activities will be required:

  1. Your doctors will fill out some questions about your health history.

  2. A doctor or nurse will draw a small bit of your blood (about 4mL) to see how active an enzyme related with Pompe disease is.

  3. You will be asked to come back for a visit to the doctor’s office if your test results show a positive test for Pompe. During this visit, you and your parents will be told about the disease, how to take care of yourself and what needs to be done about the disease.

Who can participate

Inclusion criteria:

  • Age 8 years or older.
  • Geographically accessible to one of the sites.
  • One of these following three clinical situations: Complaint of proximal muscle weakness with or without elevation in creatinine kinase (CK); neck muscle weakness (either flexor or extensor) with or without elevation in CK; or elevation of CK in isolation.
  • Capable and willing to provide informed consent or assent and follow study procedures.

Exclusion criteria:

  • Less than 8 years of age.
  • Subjects with an alternative neuromuscular diagnosis that is responsible for subject's symptoms
  • Incapable or unwilling to provide informed consent and to follow research procedures.
Benefits and risks of participating

By participating in the study, you help the doctors/researchers to learn about Pompe disease more as a step toward helping future people who have it. As a participant, you will also know whether or not you have Pompe disease. Knowing whether or not you have the disease will teach you ways to help manage.


The only part of this study that might hurt a little is the needle prick from the blood draw. But our doctors and nurses have a lot of experience drawing blood, so you’re in good hands. There is an optional muscle biopsy if you test positive for the abnormality we are looking for, but you may skip that.
You will not be paid to take part in this research study.
Study duration and period
The study visit will take 4-5 hours.
Recruitment period
From Sept. 20, 2016
UC Davis Medical Center
2315 Stockton Boulevard
Sacramento, CA 95817
Michelle Cregan
Research Topic
  • Pompe Disease

Have any questions or want to learn more? Leave your contact details below and the research team will reach out to you.


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