The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.
The study is designed to evaluate the response of cell lines derived from blood and skin tissue from Pompe patients to pharmacological chaperones. Samples of blood and skin tissue will be obtained to make cell lines that will be used to test pharmacological chaperones. The study will include patients with early and late-onset Pompe disease.
Study Type
OBSERVATIONAL
Enrollment
30
Ex vivo administration of AT2220
University of Florida
Gainesville, Florida, United States
Washington University
St Louis, Missouri, United States
Center for Metabolic Disorders
Lake Success, New York, United States
Duke University
Durham, North Carolina, United States
To evaluate and characterize the effects of pharmacological chaperones on enzyme activity and other markers of disease in cell lines derived from patients with Pompe disease
Time frame: 1 week
To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease
Time frame: 1 week
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