Overview of the Pompe Registry

Overview
Patient Eligibility
Institutional Review Board/Ethics Committee Review
Patient Authorization
Patient Discontinuation
Data Collection and Submission
Quality Assurance of Data
Statistical Methods and Data Reporting
Pompe Registry Materials

Overview

The Pompe Registry is an ongoing, observational program 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, identification, 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 to provide 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 and support measures, including enzyme replacement therapy (ERT).

Patient Eligibility

Inclusion Criteria

Confirmation of diagnosis is defined as documented GAA enzyme deficiency from any tissue source and/or documentation of 2 GAA gene mutations.

All patients who have a confirmed diagnosis of Pompe disease and have signed the Pompe Registry Patient Information and Authorization form are eligible for inclusion.

Exclusion Criteria

There are no exclusion criteria in this Registry.

Registry patients are allowed to participate in clinical studies; however, patients enrolled in Genzyme sponsored clinical trials should suspend active participation in the Pompe Registry from the time clinical trial informed consent is provided until the patient discontinues or completes the clinical trial.

Institutional Review Board / Ethics Committee Review

The Pompe Registry protocol, the Patient Information and Authorization Form, 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 participating physician or clinical center prior to obtaining patient authorization to participate in the Registry. However, since no experimental procedures are included in the protocol, the committee chairperson may decide that a full IRB or IEC review is not warranted. It is often only necessary to approve the Registry Patient Information and Authorization Form.

Patient Authorization

For every patient, appropriate patient authorization will be obtained and documented according to national privacy regulations and other state and/or local laws relating to medical information before data is submitted to the Registry.

Patient Discontinuation

Patient participation is voluntary. The patient may decline to participate or withdraw authorization at any time and without affecting his/her medical treatment.

Data Collection and Submission

The purpose of the Pompe Registry is to collect uniform and meaningful clinical data on patients with Pompe disease. The Pompe Registry is focused on collecting key assessments and clinical outcomes associated with the management of Pompe disease. Since, at the time of enrollment, patients will be at various stages in their disease course and medical care, both retrospective and prospective data collection is requested to promote data uniformity among all registry patients. The data collected by physicians or their designees are submitted to the Registry for central processing. Where possible, Internet technology and other electronic advancements will be utilized to optimize data collection, education, and reporting capabilities.

A primary contact person located at the participating institution should be designated as the individual responsible for completing and submitting electronic or paper Pompe Registry case report forms (eCRFs).

Quality Assurance of Data

Data collected through the Pompe Registry are entered into a database and analyzed. Genzyme Global Registry Programs and Data Management staff will review the data for missing points, incomplete information, and discrepancies with previously submitted data. If necessary, data discrepancies are resolved with the site electronically (via automated system queries and/or manual queries), 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. In addition, reports may be provided to appropriate regulatory authorities. These reports will provide a summary of de-identified, aggregated Pompe Registry data (baseline and follow-up).

Pompe Registry Materials

The Patient Information and Authorization Form along with the Recommended Schedule of Assessments can be accessed at the Registry Materials section of this site . Additional materials can be found on the Registry Resources page by participating physicians after logging into the secure area.