Gaucher Registry

The foundation of the Therapeutic Goals program is composite data from the Gaucher Registry. The Registry is the ongoing longitudinal international database that tracks demographic and clinical outcome data from patients with Gaucher disease. The Registry was established in 1991 and is a program sponsored by Genzyme Corporation.

The Registry is open to all patients worldwide, irrespective of treatment status and currently includes more than 3800 patients. The Gaucher Registry complies with the Health Insurance Portability and Accountability Act (US) and the EU Privacy Directive.

Scientific direction is provided to the Registry by an independent group of physicians, the International Collaborative Gaucher Group (ICGG) Regional Coordinators. These doctors are based in several countries: Argentina, Australia, Brazil, Canada, Germany, Israel, Italy, Japan, the Netherlands, Poland, Spain, Sweden, United States, and the United Kingdom.

The Registry’s goals are to contribute significantly to the medical understanding of Gaucher disease and to improve the quality of care for patients with Gaucher disease worldwide through publications based on Registry findings.

The Registry has published papers on patient demographics and disease characteristics, outcomes with enzyme replacement therapy (ERT) guidelines on diagnosis, initial assessment and ongoing monitoring, treatment goals, and ERT dosing.

The Gaucher Registry provides a platform to track the progress of patients individually and collectively. Enrollment of more patients into the Gaucher Registry and regular submission of data for existing and new patients will further enrich the evidence base it represents and help inform decisions on the treatment of Gaucher disease.

To learn more about how to enroll your Gaucher disease patients, visit the Gaucher Registry website.

Gaucher Registry Can Help Patients Get to Goal

A process of patient assessment, goal setting, and determination of individualized dosing is repeated during initiation and maintenance of ERT. If data are routinely entered into the Gaucher Registry Database, Patient Case Reports printed from the Registry website can assist with clinical decision-making.

Patient Case Reports Help Patients Get to Goal

Patient Case Reports (PCRs) are designed to be used as a tool to provide health care practitioners and/or patient caregivers with specific evidence about therapeutic goal attainment and maintenance. PCRs track individual patient’s hemoglobin levels, platelet counts, liver volumes, spleen volumes, bone status, and biomarker levels.

Putting PCRs into Practice
The schema below suggests a practical process for incorporating PCRs into regular practice. A coordinator can manage the data entry and paperwork for the office.

Regular data entry and report retrieval can inform physicians and patients on the efficacy of therapy. PCRs are the foundation of effective long-term care for patients with Gaucher disease.

Important Safety Information

Adverse reactions related to Cerezyme® (imiglucerase for injection) administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported adverse events include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Adverse events associated with the route of administration include discomfort, pruritus, burning, swelling or sterile abscess at the site of venipuncture. Symptoms suggestive of hypersensitivity include anaphylactoid reaction, pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis and hypotension. Approximately 15% of patients have developed IgG antibodies; periodic monitoring is suggested. Side effects should be reported promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn more, please see full product information (PDF), or contact Genzyme at 1-800-745-4447.

Gaucher Registry. www.lsdregistry.net/gaucherregistry/ Accessed August 24, 2005.

Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158:1754-1760.

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-2843.

Andersson HC, Charrow J, Kaplan P, et al. Consensus statement by the ICGG U.S. Regional Coordinators on the individualization of enzyme replacement therapy (ERT) for type 1 Gaucher disease. 2000.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1,028 patients with type 1 Gaucher disease after 2-5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002 113:112-119.

U.S. Regional Coordinators. U.S. Regional Coordinators' Recommendations for Long-term ERT Individualization, October 2003.