Patient Enrollment

Once a signed Patient Authorization form has been obtained, the site enrolls new patients in the Pompe Registry by completing the Patient Enrollment/Initial Contact Form within the Pompe Registry data submission system.

If you intend to submit data on paper case report forms, you will receive and submit the Patient Enrollment/Medical History Form during your Registry training program after you have enrolled as a physician.

Diagnostic Testing

Prior to enrolling a patient, physicians are required to establish a confirmed diagnosis of Pompe disease for each patient. Confirmed diagnosis is defined as:

• documented GAA enzyme deficiency from any tissue source and/or documentation of 2 GAA gene mutations