Type 1 Gaucher disease is a chronic, multisystemic condition that is highly heterogeneous.
Because of this variability, management of patients with Type 1 Gaucher disease cannot be homogeneous. A "one size fits all" approach is generally not useful. Patients with Type 1 Gaucher disease often require personalized approaches to therapy.
A patient-centered, goal-oriented approach is key to working towards optimal outcomes for patients with Type 1 Gaucher disease. Patients may look to a health care provider as a health advocate who can help them understand and manage the physical, mental, and social aspects of the disorder. Each patient requires:
- An individualized treatment plan, including therapeutic goals and individualized dosing, based on initial comprehensive and compartmentalized assessments of skeletal, hematologic, and visceral manifestations
- Support in addressing both mental and physical health issues, potentially including referral to a genetic counselor and/or patient advocacy organization where the patient can share experiences with others who are living with the disease
- Coordinated care, which may require the treating physician to educate other providers, including school nurses for pediatric patients, about Type 1 Gaucher disease.
Because patient needs vary, disease management approaches must be flexible. This section contains ideas and resources for managing many of the challenges of Type 1 Gaucher disease.
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:
- bone disease
- hepatomegaly or splenomegaly
Important Safety Information
Approximately 15% of patients have developed IgG antibodies to Cerezyme during the first year of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity, and these patients have a higher risk of hypersensitivity. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment.
Hypersensitivity has also been observed in patients without detectable IgG antibodies. Symptoms suggestive of hypersensitivity have been noted in approximately 6.6% of all patients, and anaphylactoid reactions in less than 1%. Treatment with Cerezyme should be approached with caution in patients who have exhibited hypersensitivity symptoms such as pruritus, flushing, urticarial, angioedema, chest discomfort, dyspnea, coughing, cyanosis, and hypotension. Pre-treatment with antihistamines and/or corticosteroids and a reduced rate of infusion may allow continued treatment in most patients.
In less than 1% of patients, pulmonary hypertension and pneumonia have been observed during treatment with Cerezyme. These are known complications of Gaucher disease regardless of treatment. Patients with respiratory symptoms in the absence of fever should be evaluated for the presence of pulmonary hypertension.
Approximately 13.8% of patients have experienced adverse events related to treatment with Cerezyme. Some of these are injection site reactions such as discomfort, pruritus, burning, swelling or sterile abscess at the site at the site of venipuncture. Additional adverse reactions that have been reported include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Transient peripheral edema has also been reported for this therapeutic class of drug.
To report suspected adverse reactions, contact Genzyme at 800-745-4447, option 2 or FDA at 800-FDA-1088 or http://www.fda.gov/Safety/MedWatch
Please see Full Prescribing Information (PDF).