Genzyme moves Gaucher’s treatment into phase II

Genzyme said that it will conduct the study in patients with type 1 Gaucher disease at medical centers in Europe, Israel, South America and the US. 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 II program follows completion of an extensive preclinical research effort and a phase I program that involved more than 120 subjects in three separate studies. In preclinical studies, Genz-112638 has shown high potency and specificity.

Genz-112638 is a ceramide analog given as an oral capsule. It 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 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.