Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease

NCT01665326 RECRUITING

This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and response to immunosuppressive therapy in cases at risk for developing or those who have developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will collect medical records including but not limited to the diagnosis, clinical parameters, assessments for clinical monitoring, and laboratory values including antibody testing results.

Details

Lead sponsor	Duke University
Status	RECRUITING
Enrolment	400
Start date	2009-09
Completion	2029-03

Conditions

• Pompe Disease

Interventions

• Observational

Primary outcomes

• Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme) — Up to 18 years
  Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to ERT. This will allow us to gain an understanding of CRIM status in relation to clinical outcomes and development for these subjects.

Countries

United States