Gaucher Registry

The Gaucher Registry is the world's largest cooperative observational study on Gaucher Disease. The International Collaborative Gaucher Group (ICGG) established the registry in 1991 as a longitudinal database tracking outcomes of routine clinical practice. Since its approval, the registry has collected data on over 6,000 Gaucher patients. All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion. By enrolling patients in the registry, participating physicians receive patient-specific reports to monitor disease status and access to information on current treatment guidelines and practice patterns.

Since 1991, enrollment in the Gaucher Registry has grown steadily with increased numbers of physicians submitting data on more patients from a larger number of countries around the world. The participation of so many concerned physicians, healthcare advocates and patients has enabled the Gaucher Registry to help change the perspective and management of Gaucher disease. In 1991, Gaucher disease was regarded as a rare, debilitating genetic disorder that could not be treated. Today, Gaucher disease is regarded as a genetic disease that can be managed effectively for most patients.

Data from the Gaucher Registry has provided insight into Gaucher disease by supporting many published manuscripts. Each of these publications has helped to increase the understanding of Gaucher disease, its natural history, diagnosis, treatment, and management as well as bone disease, pediatrics, and genotypes.
The Gaucher Registry maintains its integrity by a commitment to patient privacy and confidentiality, as well as a commitment to the quality of the data. To ensure the most comprehensive data, the Gaucher Registry is open to all patients with Gaucher disease, regardless of treatment modality. The Gaucher Registry is in compliance with HIPAA (Health Insurance Portability and Accountability Act), as well as the EU Privacy Directive.

Talk with your doctor about enrolling, or visit gaucherregistry.com for more information. If your doctor is not aware of the Gaucher Registry, Download the Gaucher Registry Overview sheet and bring it to your next visit. It will provide the information your doctor needs to join the Registry and get you enrolled.

Indication & Usage

Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:

  1. anemia (low red blood cell count)
  2. thrombocytopenia (low blood platelet count)
  3. bone disease
  4. hepatomegaly or splenomegaly (enlarged liver or spleen)

Important Safety Information

Approximately 15% of patients have developed immune responses (antibodies) to Cerezyme during the first year of therapy. These patients have a higher risk of an allergic reaction (hypersensitivity). Your doctor may periodically test for the presence of antibodies. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients. Symptoms suggestive of allergic reaction happened in approximately 7% of patients, and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.

High blood pressure in the arteries of the lungs (pulmonary hypertension) and pneumonia have been observed in less than 1% of patients during treatment with Cerezyme. These are also known complications of Gaucher disease regardless of treatment. If you experience symptoms such as shortness of breath or chest pain, with or without fever, contact your doctor.

Approximately 14% of patients have experienced side effects related to treatment with Cerezyme. Some of these reactions occur at the site of injection such as discomfort, itching, burning, swelling or uninfected abscess. Other side effects, each of which was reported by less than 2% of patients, include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Temporary swelling in the legs has also been observed with drugs like Cerezyme.

Please see Full Prescribing Information (PDF).

Cerezyme has been demonstrated for over 17 years to be an effective treatment for Type 1 Gaucher disease in adults and children.