About Pompe Registry
Introduction
Patient Eligibility
IRB
Confidentiality
Patient Authorization
Data Collection and Submission
Quality Assurance of Data
Statistical Methods and Data Reporting
Registry Sponsor
Introduction
The Pompe Registry is an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease. Participation is open to all physicians managing patients with Pompe disease. Physicians are encouraged to collaborate, share observations, and generate hypotheses for evaluation, as well as assist in the collection of clinical data in an effort to guide and assess potential future therapeutic intervention.
The primary objectives of the Registry are:
- To enhance the understanding of the variability, progression and natural history of Pompe disease,
- To provide the Pompe medical community with recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; and
- To characterize and describe the Pompe population as a whole.
Patient Eligibility
Inclusion Criteria
All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion. Confirmed diagnosis is defined as:
- documented GAA enzyme deficiency from any tissue source or GAA gene mutations(s)
Exclusion Criteria
There are no exclusion criteria in this Registry.
Patients participating in Genzyme sponsored clinical trials must suspend participation in the Registry while any study is ongoing. Patients are allowed to participate in clinical studies or expanded access programs that are not Genzyme sponsored Pompe clinical trials.
Institutional Review Board / Ethics Committee Review
This protocol, the Patient Information and Authorization, and relevant supporting information should be submitted to an Institutional Review Board (IRB) or Independent Ethics Committee (IEC) for review and approval at the discretion of the enrolling physician. Since no experimental procedures are included in the protocol, expedited review by the committee chairperson is often only necessary to approve the Patient Authorization.
Confidentiality
Patient Confidentiality
To maintain patient confidentiality, all patients are referenced by Registry identification (ID) number only, not by name. If supplemental laboratory or imaging reports are submitted to the Registry, the patient’s name should be deleted and the patient’s initials and ID number should be added to each attached page.
Physician Confidentiality
All physician information is confidential. Furthermore, physician-specific data will remain confidential and will not be released to other physicians without prior written approval. No physician to physician data comparisons will be made.
Patient Authorization
For every patient, appropriate patient authorization will be obtained according to national privacy regulations and other state and local laws relating to medical information before data is submitted to the Registry.
Data Collection and Submission
The purpose of the Registry is to collect uniform and meaningful clinical data on patients with Pompe disease. Since, at the time of enrollment, patients will be at various stages in their disease course and medical care, the Registry is focused on collecting all assessments and clinical outcomes associated with the management of their disease. Thus, to promote data uniformity among all Registry patients, both retrospective and prospective data collection may be requested. Data collection will focus on cardiac, muscle, respiratory, and other clinical assessments that are routinely evaluated for patients with Pompe disease. The data collected by physicians or their designees are submitted to the Registry for central processing. Internet technology and other electronic advancements will be utilized to enhance data collection, education, and reporting capabilities.
A primary contact person located at the participating institution should be designated as the person who will be responsible for completing and submitting electronic Pompe Registry case report forms (eCRFs).
Quality Assurance of Data
Data collected through this Registry will be entered into a database and analyzed. Genzyme’s Global Registry Programs staff will review the data for missing points, incomplete information, and discrepancies with previously submitted data. If necessary, issues are resolved with the site electronically, by telephone, FAX, or site visit. All data management and analysis will occur in a validated computing environment.
Statistical Methods and Data Reporting
Data will be analyzed and reported periodically and upon individual requests from participating physicians. Analyses will be performed using the SAS statistical software system. Baseline demographic and background variables will be summarized for the patients enrolled in the Registry using descriptive statistics.
Registry Sponsor
The Pompe Registry is sponsored by Genzyme Corporation. Genzyme reserves the right to discontinue the Registry at any time.
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Genzyme Corporate
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