A GLOBAL PROSPECTIVE OBSERVATIONAL REGISTRY OF PATIENTS WITH POMPE DISEASE
C
Cynthia Bodkin, MD
Primary Investigator
Enrolling By Invitation
18 years - 100 years
All
Phase
N/A
2 participants needed
1 Location
Brief description of study
What is this study about?
The goal of this registry is to assess clinical outcomes in patients with Pompe disease, including patients with LOPD or IOPD, regardless of current or previous therapy. The use of real-world data for this registry will enable the evaluation of the long-term safety and effectiveness of Pompe disease treatments in a broad population of patients with Pompe disease.
THIS STUDY IS ENROLLING BY INVITATION ONLY
Detailed description of study
What does this study involve?
- This is a global, multicenter, prospective, observational registry of patients with Pompe disease.
- The registry will be conducted at approximately 100 sites that manage patients with Pompe disease, including patients with either LOPD or IOPD.
- No mandatory visits, tests, or assessments are required for this registry.
- All clinic visits will be scheduled and conducted according to the participating site’s normal clinical practice or
caregiver/patient option to report data. - All patients with LOPD or IOPD being cared for at participating sites will be invited to enroll in the registry.
- The registry will also include a “long-term cohort” that consists of patients from cipaglucosidase alfa/miglustat clinical trials or an EAP who continue to receive this therapy after local regulatory approval.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Pompe disease, LOPD, IOPD
-
Age: 18 years - 100 years
-
Gender: All
Inclusion Criteria
• Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme
activity and/or GAA genotyping
• Appropriate informed consent/assent obtained for participation in the registry
Exclusion Criteria
• Patients who are currently receiving an investigational therapy for Pompe disease in a
clinical trial, compassionate use program, or an EAP
• Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme
activity and/or GAA genotyping
• Appropriate informed consent/assent obtained for participation in the registry
Exclusion Criteria
• Patients who are currently receiving an investigational therapy for Pompe disease in a
clinical trial, compassionate use program, or an EAP
Updated on
21 Apr 2025.
Study ID: NEUR-AMICUS-POM-005, 20106
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