Genzyme Begins Phase 2 Trial of Oral Treatment for Gaucher Disease


Genzyme Corporation announced that it has begun to treat patients in a Phase 2 clinical trial of Genz-112638, an oral therapy being developed for the treatment of Gaucher disease. Genzyme will conduct the study in patients with Type 1 Gaucher disease at medical centers in Europe, Israel, North America and South America.

Genz-112638, a ceramide analog given as an oral capsule, is designed to inhibit the enzyme glucosylceramide synthase, which results in reduced production of glucocerebroside. This is the substance that builds up in the cells and tissues of people with Gaucher disease. In preclinical studies, the molecule has shown high potency and specificity. In addition to Gaucher disease, there are a variety of other conditions that can be caused by malfunctions in the pathway targeted by this molecule, such as Tay-Sachs, Sandhoff, and Fabry diseases.

The open-label trial will evaluate patient response for one year according to several primary endpoints, including changes in hemoglobin, platelet levels and spleen volume. Other endpoints to be investigated include change in liver volume and a series of biomarkers and quality of life indicators relevant to Gaucher disease.

Initiation of the Phase 2 program follows completion of an extensive pre-clinical research effort and a Phase 1 program that involved more than 120 subjects in three separate studies. The first public presentation of the Genz-112638 pre-clinical and Phase 1 data occurred July 19 at the European Working Group on Gaucher Disease Workshop in Cambridge, UK.

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