Australia funds oral therapy for people with rare genetic disorder

Pharma News: An innovative oral therapy for Australians affected by a lysosomal storage disorder (LSD) has been added to the Life Saving Drugs Program.

The Federal Government announced that it will fund Sanofi’s Cerdelga (eliglustat) through the Life Saving Drugs Program for the treatment of eligible adults with Gaucher disease type 1, a disorder that causes a lipid called glucosylceramide (known as GL-1) to build up in the spleen, liver and bones, enlarging organs and impairing their function.

Until now, patients have been treated with life-long, fortnightly intravenous infusions. People with Gaucher disease do not have a sufficient level of an enzyme called beta-glucosidase (glucocerebrosidase) that breaks down a certain type of fat molecule, glucosylceramide. As a result, lipid-engorged cells amass in different parts of the body, primarily the spleen, liver and bone marrow. The most common form of Gaucher disease, type 1, which affects 90 % of those with the condition, generally does not affect the brain.

Professor Stephan Opat, Director of Clinical Haematology, Monash Health, said “As a lifelong condition, the goal of treatment is to help people affected by the symptoms of Gaucher disease, which include an enlarged abdomen, bone pain, fractures, fatigue and bruising, enjoy as normal a life as possible.
The availability of an oral therapy suitable for the majority of patients represents a significant shift from intravenous therapy in the management of Gaucher disease type 1.”

The Sanofi clinical development program for Cerdelga is the largest ever conducted in Gaucher disease with approximately 400 patients having been treated in 29 countries.

In the pivotal clinical trial called ENCORE, which led to the registration of the product by the Australian Therapeutic Goods Administration, Cerdelga was proven to maintain haematological and organ volume stability in those adults with Gaucher disease type 1 who had reached therapeutic goals with intravenous enzyme replacement therapy. The study findings support the use of Cerdelga.

Findings from a real-world evidence study were consistent with those reported in the pivotal clinical trials, demonstrating the long-term benefit of Cerdelga in treatment-naïve patients and patients switched from enzyme replacement therapy.

Dr Kasia Siwek, Country Head of Medical – Speciality Care, Sanofi Australia and New Zealand, said “For close to 40 years Sanofi has been researching and developing life-saving therapies for Gaucher disease. As a partner of the rare disease community in Australia, we are proud to supply seven of the seventeen medicines listed on the Life Saving Drugs Program. Cerdelga is a testament to our drive to innovate for people with rare diseases.”

Cerdelga is available in capsules (84 mg) to be taken by mouth. Before starting treatment, the patient is tested to see how rapidly their bodies break down the medicine. Patients who break down the medicine at normal speed take 1 capsule twice a day, while those who break down the medicine slowly take 1 capsule once a day.