The following recommended goals are based upon composite information obtained from the Gaucher Registry. Patient responses may vary and physicians should use their own medical judgment in applying these recommendations in the care of their patients.

Bone Disease
Anemia
Thrombocytopenia
Hepatomegaly
Splenomegaly

Disease Management Algorithm

Development and maintenance of therapeutic goals for patients with type 1 Gaucher disease requires an integrated approach. Regardless of clinical presentation and symptoms, all patients should receive an initial comprehensive assessment of all potential disease compartments: anemia, thrombocytopenia, hepatomegaly, splenomegaly, bone disease, growth retardation in pediatric patients, pulmonary involvement, functional health and well-being, and a thorough physical examination and assessment of biomarkers. The information obtained should then be used to establish therapeutic goals for all affected disease compartments.

Enzyme replacement therapy (ERT) with Cerezyme® (imiglucerase for injection) (a recombinant enzyme; Genzyme Corporation, Cambridge, MA, USA) is, at present, the core of any therapeutic plan. Cerezyme® is indicated for long-term ERT for pediatric and adult patients with a confirmed diagnosis of Type I Gaucher disease that results in one or more of the following conditions: anemia, thrombocytopenia, bone disease, hepatomegaly or splenomegaly. Dosing of ERT should be individualized according to severity of burden and therapeutic goals and patients should subsequently be assessed by regular monitoring. If therapeutic goals are not achieved, dose adjustment may need to be considered along with the possibility of irreversible pathology or intercurrent illness. After achievement of therapeutic goals, the clinical focus should shift to maintenance of therapeutic goals as assessed by regular monitoring. Clinical success is defined as attainment of therapeutic goals for disease compartments.

Please see the full prescribing information (PDF) for Cerezyme and the important safety information below.

Throughout this integrated approach to caring for the patient, periodic submission of data to the Gaucher Registry is encouraged for continual enhancement of the scientific information that it contains and for optimizing the prospect of improving future outcomes of patients with Gaucher disease.

Therapeutic Goals and Monitoring for Type 1 Gaucher Disease

The need to develop therapeutic assessments and goals for type 1 Gaucher disease has been recognized since the mid-1990s.

The therapeutic guidelines are based on the proceedings of an international meeting convened in October 2003 to establish therapeutic goals for the treatment of type 1 Gaucher disease. The experts developed a consensus based on data from the Gaucher Registry, review of the published literature, and collective experience. The meeting was supported by a grant from Genzyme Corporation.

Members of Expert Panel

Neal J. Weinreb, MD
University Research Foundation for Lysosomal Storage Diseases
Coral Springs, FL, USA

Gregory Pastores, MD
New York University School of Medicine
New York, NY, USA

Hans Aerts, PhD
Academic Medical Centre
Amsterdam, The Netherlands

Generoso Andria, MD
”Federico II” University
Naples, Italy

Timothy M. Cox, MD
Addenbrooke’s Hospital
Cambridge, UK

Manuel Giralt, MD
Hospital Miguel Servet
Zaragoza, Spain

Gregory A. Grabowski, MD
Children’s Hospital Research Foundation
Cincinnati, OH, USA

Pramod K. Mistry MD, PhD
Yale University School of Medicine
New Haven, CT, USA

Anna Tylki-Szymanska, MD
The Children’s Memorial Health Institute
Warsaw, Poland

The monitoring guidelines presented are a revision of the original ICGG guidelines prepared in 1998. Since that time, the number of patients enrolled in the Registry has tripled, and a greater understanding of responses to ERT has emerged.

Download the Gaucher Registry Monitoring Guidelines (PDF).

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.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1,028 patients with type 1 Gaucher disease after 2-5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002; 113:112-119 .

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000; 160:2835-2843.

Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 suppl 5):4-14.