Genzyme announced that patients have begun treatment in a Phase 2a clinical trial focused on evaluating the pharmacodynamics of GZ/SAR402671, a new oral substrate reduction therapy being investigated for the treatment of Fabry disease. The safety, tolerability and pharmacokinetics of GZ/SAR402671 will also be assessed. Genzyme plans to enroll nine treatment-naïve male adult patients with Fabry disease in this international, multicenter study.

Fabry disease is a rare lysosomal storage disorder that results in abnormal tissue deposits of a particular fatty substance (called globotriaosylceramide, also referred to as GL-3 or Gb3) throughout the body. GZ/SAR402671 is a glucosylceramide synthase inhibitor that blocks the formation of glucosylceramide (GL-1), a key intermediate in the synthesis of GL-3. It often results in kidney failure.

The Phase 2a trial is an open label, single-arm clinical trial. Patients will receive GZ/SAR402671 orally, once daily. The primary endpoint in the Phase 2a trial will assess the ability of GZ/SAR402671 to reduce accumulated GL-3 from the skin capillary endothelium. Upon completion of the 26 week study, patients will have the option to enroll into an extension study.

“We are excited to learn more about the potential of GZ/SAR402671, which has a different mechanism of action than the current standard of treatment for Fabry disease, enzyme replacement therapy, and a potential ability to cross the blood brain barrier,” said Genzyme’s Acting Head of Rare Diseases, Richard Peters, M.D, Ph.D. “The ongoing efforts on this program underscore our long standing commitment to develop innovative therapies intended to address the unmet needs of the Fabry patient community.”