Ongoing Monitoring

Regular comprehensive and reproducible evaluation of disease compartments is recommended for all patients. The indicated frequency of monitoring depends on whether a patient is taking enzyme replacement therapy (ERT), and whether those patients have met therapeutic goals. All patients should be evaluated if there has been a dosing change or a significant clinical complication has occurred.

Download the Gaucher Registry Monitoring Guidelines (PDF).

Biochemical Markers

Chitotriosidase, an enzyme secreted by activated macrophages, is the most studied biomarker of Gaucher disease burden. Chitotriosidase activity is elevated in the sera of patients with Gaucher disease. Chitotriosidase activity has been shown to decrease with ERT in a dose-dependent manner and to correlate with improvement in hematologic and visceral parameters, but a clear correlation between clinical status and change in chitotriosidase level has not been established.

Values are variable between patients and a small proportion of patients (6%) do not have serum chitotriosidase because of a mutation. Single measurements of chitotriosidase activity are not clinically relevant; only serial measurements have prognostic value. Serial increases in serum chitotriosidase activity may be an early indicator of clinical relapse, including after dosage reduction or treatment interruption. Chitotriosidase levels are interpreted in conjunction with clinical assessments.

Additional or alternative biomarkers that are elevated in Gaucher disease are angiotensin-converting enzyme (ACE) and tartrate-resistance acid phosphatase (TRAP). ACE is a nonspecific indicator of lipid storage. TRAP, distinguished from total acid phosphatase, is often higher in the presence of active bone 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.

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