Rare Daily Staff

Sanofi is beginning a pivotal clinical trial to study the safety, efficacy, and tolerability of its investigational oral agent venglustat for the treatment of patients who are at risk of rapidly progressive autosomal dominant polycystic kidney disease (ADPKD).

ADPKD is a devastating rare genetic kidney condition that leads to the growth of numerous cysts in the kidneys. Affecting an estimated 120,000 people in the United States and 170,000 in the European Union, ADPKD becomes so severe for approximately half of those patients that they face either a lifetime of dialysis or a kidney transplant. The symptoms of ADPKD usually start to appear between the ages of 30 and 40, but they can begin as early as childhood for some patients.

ADPKD is caused by a mutation in the PKD1 or PKD2 gene that leads to a build-up of complex substances called glycosphingolipids in the kidneys.  Glycosphingolipid accumulation is thought to be an important driver of cyst growth, which can cause chronic pain and lead to reduced kidney function and kidney failure in ADPKD patients.

Venglustat is designed to inhibit the abnormal accumulation of glucosylceramide, which plays a role in production of glycosphingolipids. In genetic mouse models of ADPKD, inhibition of glycosphingolipid production has been shown to reduce kidney cyst growth.  Venglustat has received Orphan Drug designation in the United States for the treatment of ADPKD. The ADPKD clinical trial will be conducted at sites in the United States, Canada, China, and Japan, as well as several European Union countries.

“Our understanding thus far of both the cause and progression of ADPKD and the mechanism of action of venglustat present us with a path forward in this research effort,” said Gianluca Pirozzi, head of development for rare diseases and head of Translational Gene Therapy, Sanofi Genzyme.

October 26, 2018

Photo: Gianluca Pirozzi, head of development for rare diseases and head of Translational Gene Therapy, Sanofi Genzyme

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