The Gaucher Registry

Are you looking for a way to contribute to a larger goal that may help you and other people living with Gaucher disease? Ask your doctor about participating in the Gaucher Registry.

The International Collaborative Gaucher Group (ICGG) Gaucher Registry, sponsored by Genzyme, is the largest cooperative, observational registry on Gaucher disease. Many medical professionals agree that since Gaucher disease is rare, accurate and complete information on the disease is especially important. The Gaucher Registry was established in 1991 in order to better understand the natural history and progression of Gaucher disease. Today, the Registry includes more than 6,000 patients and is open to all patients worldwide, irrespective of treatment status.

Through the Gaucher Registry, healthcare providers and disease specialists can share clinical information about Gaucher disease. This may ultimately contribute to earlier diagnosis, earlier intervention, and better disease management for you and other people living with Gaucher disease.

In addition to helping understand the natural history progression of Gaucher disease, the Gaucher Registry is designed to:

  • study trends and address specific questions about Gaucher disease
  • provide the Gaucher medical community with information about the Gaucher disease population around the world
  • help physicians evaluate the long-term effects of treatment

Are you enrolled in the Registry?

Consult with your physician about enrolling in the Gaucher Registry and receiving a patient case report to better understand your long-term care.

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Diagnosis and Testing

Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »