Overview of the Registry

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

Overview
The Gaucher Registry is the largest cooperative, observational registry on Gaucher disease. It was established in 1991 as a longitudinal database tracking outcomes of routine clinical practice. By January 2007, data from over 4,585 patients with Gaucher disease have been collected from physicians in 56 countries.

The Registry’s goal is to significantly contribute to the medical understanding of Gaucher disease and to improve the quality of care for Gaucher patients worldwide through active publication of Registry findings and disease management approaches.

The objectives of the Registry are:

• to enhance the understanding of the variability, progression, and natural history of Gaucher disease with the ultimate goal of better guiding and assessing therapeutic intervention;
• to provide the Gaucher medical community with recommendations for monitoring patients and to provide reports on patient outcomes to help optimize patient care; and
• to evaluate the long-term effectiveness of ERT.

Patient Eligibility

Inclusion Criteria
All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion in the Registry. Confirmed diagnosis is defined as a documented β-glucocerebrosidase deficiency and/or mutation in the β-glucocerebrosidase gene.

For all patients, appropriate patient authorization will be obtained.

Exclusion Criteria
There are no exclusion criteria for participation in the Gaucher Registry. Registry participation does not exclude participation in other clinical studies.

Institutional Review Board (IRB) / Ethics Committee (EC) Review
Each site should independently determine whether IRB/EC review is required for participation in this Registry. In general, Regulatory authorities do not require IRB/EC approval for observational registries of routine clinical practice. Therefore, your IRB/EC chairperson may choose not to conduct a full review of the Gaucher Registry.

In the event that IRB/EC review is required at your institution, please go to Registry Materials to download the Gaucher Registry Protocol, sample Patient Authorization, sample Case Report Forms (CRFs), and sample Health Status Survey (SF-36) for use in preparing your IRB/EC submission documents.

Patient Authorization
Patients must sign an authorization before data is submitted to the Registry. A patient’s signed authorization is necessary for participation in the Registry. Click here to view a sample Patient Authorization (PDF) for use with patients in the USA. Please visit the Registry Materials section to print Patient Authorizations for use with patients in other countries.

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.

Registry Design
The Registry is an international multi-center, strictly observational program for patients with Gaucher disease; no experimental intervention is involved. Thus, a patient will undergo clinical assessments and receive care as determined by the patient’s physician. The long-term program will proceed indefinitely.

Data Collection and Submission
The purpose of the Registry is to collect uniform and meaningful data on patients with Gaucher 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 required and a standard set of case report forms (CRFs) will be utilized by participating physicians. Data collection will focus on hematologic, visceral organ, skeletal, quality of life, and other clinical assessments that are routinely evaluated, as well as ERT treatment regimens, as applicable. The data collected by physicians or their designees are submitted to the Registry for central processing. Where possible, secure internet technology and other electronic advancements will be utilized to enhance data collection, education, and reporting capabilities.

A primary Registry contact person located at the participating institution should be designated and is responsible for completing and submitting the standard Gaucher Registry CRFs in paper or electronic form. Please refer to the Submit Data section for guidance on the data collection and submission process.

Quality Assurance of Data
Data collected through this Registry will be entered into a database designed by Genzyme’s Department of BioMedical Operations and Clinical Research in collaboration with an Electronic Data Capture and Reporting (EDCR) vendor. Global Registry Programs and Data Management staff 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.

Accessing Registry Data
Data provided to the Registry will assist in optimizing the quality of patient care. As a routine service, ICGG physicians will receive summary reports of their own data, as well as aggregate Registry data. All physician and patient information are confidential. If necessary, patient data that are provided in response to data requests from the overall database will be furnished by patient identification numbers only. Your patient data will remain confidential and will not be released to other physicians without your written approval. No data comparisons between individual physician practices will be made.

Access to the overall aggregate database is open to the Gaucher medical community. Physicians interested in publishing or presenting aggregate Registry data should contact the Gaucher Registry staff. These requests will be considered in consultation with an International Review Committee according to the Publication Policy for Data from the ICGG Gaucher Registry. Similarly, analysis proposals should also be submitted for review and approval by the Gaucher Registry Staff and the ICGG Coordinators.

For more detailed information about the data reports available from the Registry and requesting specific information from the database, please refer to the Data Reporting section of this website.

Statistical Methods and Data Reporting
Data will be analyzed and reported periodically and upon individual request from participating physicians. In addition, reports may be provided to appropriate regulatory authorities. 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. For categorical variables, frequencies and percentages will be presented. For continuous variables, descriptive statistics (n, mean, median, standard deviation, minimum, and maximum) will be presented.

Data collected through the Registry and reports published using that data may be reported to regulatory authorities for a variety of purposes including information regarding the use of enzyme replacement therapy (ERT), obtaining label indications for ERT, and any other appropriate regulatory purpose.

Refer to the Data Reporting section for a more detailed explanation of possible data reports and the process for requesting a report.

Gaucher Registry Materials
The Registry Materials section of this site offers most of the necessary Registry forms in PDF format so that you can print from your browser or save the document to your computer. Supplies such as the Genotype Service Sample Collection Box and Site Status Reports must be requested from the Registry. Please contact the Gaucher Registry staff to order the Genotype Service Sample Collection Box or Site Status Report.