Pompe Disease Registry

The Pompe Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Pompe disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.

The objectives of the Registry are:

• To enhance the understanding of the variability, progression, and natural history of the key manifestations of Pompe disease;
• To assist the Pompe medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;
• To characterize and describe the Pompe disease population as a whole; and
• To evaluate the long-term effectiveness and safety of available treatment options including ERT(Enzyme Replacement Therapy) with Myozyme®.

Patients diagnosed with Pompe disease

• Glycogen Storage Disease Type II
• Pompe Disease

Inclusion Criteria:

• Patient must have a confirmed diagnosis of Pompe disease, documented by GAA(Glucosidase Alpha Acid) enzyme deficiency or GAA gene mutation

Exclusion Criteria:

• There are no exclusion criteria