Therapeutic management

In 1991, Gaucher disease management shifted with the advent of targeted enzyme replacement therapy, developed by Genzyme Corporation in cooperation with the National Institute of Health.

With the introduction of human placenta-derived Ceredase®, followed three years later by a recombinant human form, Cerezyme® (imiglucerase for injection), clinicians have been able to address the cause of disease initiation and progression itself, and therefore prevent, alleviate and even reverse many effects of non-neuronopathic Gaucher disease. ^[1]

As of January 2006 more than 4500 Gaucher patients in more than 80 countries are treated with Cerezyme.

Cerezyme is the standard of care for patients who require treatment for Gaucher disease. ^[2,3,4,5] This has not changed with the arrival of an alternative treatment approach, substrate inhibition therapy, which is indicated for the treatment of mild to moderate type I Gaucher patients, but may be used only in the treatment of ADULT patients for whom ERT is unsuitable.^[2,3,4,5]

Please see the full prescribing information for Cerezyme® below:

For more information please see About Cerezyme.

Substrate inhibition therapy intends to slow the rate of production of the substrate that is accumulating as a result of the enzyme deficiency. Miglustat has been introduced in 2002 for the treatment of mild to moderate non-neuronopathic adults with Gaucher disease for whom Cerezyme is unsuitable.^[2,3,6] Although no direct comparisons with Cerezyme have been performed in treatment naive patients, it appears that it would take longer to achieve an effect with miglustat and there is no evidence of an efficacy or safety advantage over Cerezyme. ^[2]

Further clinical studies for substrate inhibition in Gaucher disease, Fabry disease, GM2-gangliosidoses (Tay-Sachs disease, Sandhoff disease, GM2 activator disease), and Niemann-Pick type C are in progress.

References

1. Summary of Product Characteristics Cerezyme®.

2. Summary of Product Characteristics Miglustat.

3. The Advisory Council to the European Working Group on Gaucher Disease (EWGGD) (2003). The role of the iminosugar N-butyldeoxynojirimycin (Miglustat) in the management of the type I (non-neuronopathic) Gaucher disease : A position statement. J. Inher. Metab. Dis. 26 (2003) 513-526.

4. Pastores et al. Therapeutic Goals in the treatment of Gaucher disease Seminars in Hematology 2004; Vol 41, N°4, (suppl 5):4-14.

5. Weinreb NJ, Barranger JA, Charrow J, et al. Guidance on the use of miglustat for treating patients with type I Gaucher disease. Am J Hematol. 2005; 80(3):223-9.