The US Food and Drug Administration (FDA) has granted a six-month Priority Review designation to Genzyme’s New Drug Application (NDA) for Cerdelga (eliglustat), an investigational oral therapy for adult patients with Gaucher disease type 1. As previously announced, the European Medicines Agency in late October validated Genzyme’s marketing authorization application (MAA) for eliglustat in the EU.

Genzyme is developing eliglustat, a capsule to be taken twice daily, to provide an effective oral treatment alternative for patients with  adult Gaucher disease type 1, and to provide a broader range of treatment options for Gaucher patients and physicians. Genzyme’s clinical development programme for eliglustat represents the largest clinical program ever conducted in Gaucher disease, with approximately 400 patients treated in 29 countries.

“The acceptance of our applications for Cerdelga represents another important milestone in our commitment to understand and respond to the needs in the Gaucher community, providing more choice for the treatment of patients,” said Genzyme’s president and CEO David Meeker, MD.

The marketing applications for Cerdelga are based on two positive Phase 3 studies for eliglustat, ENGAGE, which included patients new to therapy, and ENCORE which included patients switching from enzyme replacement therapy.  The submissions also include four years of safety and efficacy data from the eliglustat phase II study.

A Priority Review designation means FDA’s goal is to take action on an application within six months compared to 10 months under standard review.

Gaucher disease is an inherited condition and people with the disease do not have enough of the enzyme, ß-glucosidase (glucocerebrosidase) leading to the accumulation of its substrate, glucosylceramide. As a result, lipid engorged cells (called Gaucher cells) amass in different parts of the body, primarily the spleen, liver and bone marrow. Accumulation of Gaucher cells may cause spleen and liver enlargement, anaemia, excessive bleeding and bruising, bone disease and a number of other signs and symptoms. The most common form of Gaucher disease, type 1, generally does not affect the brain.

Eliglustat an investigational new drug is a novel glucosylceramide analog given orally and was designed to partially inhibit the enzyme glucosylceramide synthase, resulting in reduced production of glucosylceramide. Glucosylceramide is the substance that builds up in the cells and tissues of people with Gaucher disease. The concept was initially developed by the late Norman Radin, MD, from the University of Michigan. In pre-clinical studies, the molecule, developed with James A Shayman, MD, also from the University of Michigan, has shown high potency and specificity.

Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years.