A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

A Multicenter Study to Evaluate and Characterize the Effects of Pharmacological Chaperones in Cell Lines Derived From Blood and Skin Samples From Patients With Pompe Disease

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.

Inclusion Criteria:

• Male or female of any age
• Confirmed diagnosis of Pompe disease (early or late-onset)
• Clinically stable
• Written informed consent by subject or legal representative

Exclusion Criteria:

• Other significant disease or otherwise unsuitable for the study, as determined by the investigator