Understanding Disease Progression

Type 1 Gaucher disease typically follows a progressive course. The disorder may result in debilitating or disabling symptoms that may become difficult or impossible to reverse. Disease progression can vary widely and have an unpredictable course.1

Physical consequences

  • Bone disease
    • Skeletal damage can cause long-term disability and mortality1
    • Osteosclerosis and vertebral compression may become irreversible if untreated1
    • Bone crises are often attributed to synovitis or osteomyelitis, resulting in missed or delayed diagnosis2
  • Hepatomegaly and Splenomegaly
    • Patients with type 1 Gaucher disease may be at risk for irreversible spleen and liver damage3
    • In rare cases, increased liver volume may result in cirrhosis, portal hypertension, and variceal bleeding3
  • Anemia and Thrombocytopenia
    • Hypersplenism can result in hematologic abnormalities such as anemia and thrombocytopenia1
  • Shortened life expectancy
    • Life expectancy may be decreased by approximately 9 years due to cardiovascular, cerebrovascular, liver and pulmonary diseases5
    • Symptomatic patients may die prematurely from complications related to infection, heart disease, liver disease, bleeding, and severe pulmonary disease5

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
  2. thrombocytopenia
  3. bone disease
  4. 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).

References

  1. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Ach Intern Med. 1998;158:1754-1760.
  2. Kishnani P, Skeletal and Hematologic Pathology of Type 1 Gaucher Disease, Duke University School of Medicine, CME Course, 2008.
  3. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995; 2:2641-2661.
  4. Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher 16. Karem E, Elstein D, Abrahamov A, et al. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9(2)340-345.
  5. Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83(12):896-900.
It has been observed in Registry data that Cerezyme therapy improved bone pain as early as 3 months, decreased bone crisis within 12 months, and improved bone mineral density after 24 months.