It is now looking likely that Sanofi’s Cerdelga will be funded on the NHS in England and Wales to treat type 1 Gaucher disease, after a u-turn by cost regulators.

The National Institute of Health and Care Excellence (NICE) has issued a positive Final Evaluation Determination (FED) recommending Cerdelga (eliglustat) as a first-line treatment for adults with the condition within its marketing authorisation, superseding a previous provisional rejection.

Gaucher disease is a very rare, inherited and potentially life-threatening genetic condition which is incurable but can be managed with effective treatment.

It is caused by a deficiency of an enzyme (glucocerebrosidase) which leads to the build-up of complex lipids (fatty substances) in some types of blood cells. These are known as Gaucher cells and occur throughout the liver, spleen, bone marrow and occasionally the lungs.

The current standard of care in the UK is enzyme replacement therapy, but long-term reliance on these intravenous infusions “are not suitable or practical for all,” says Sanofi, underscoring the need for new treatment options.

Unlike enzyme replacement therapy, Cerdelga is a substrate reduction therapy that partially inhibits an enzyme called glucosylceramide synthase, resulting in reduced production of glucosylceramide (the fatty substance which accumulates in people with Gaucher disease) and Gaucher cells.

EU approval of the twice-daily pill back in 2015 was based on data from the largest clinical research programme ever conducted in Gaucher disease type 1 at the time, involving around 400 patients, which showed that Cerdelga improved a variety of endpoints including spleen size, platelet levels, hemoglobin levels, and liver volume, and also showed non-inferiority to the enzyme replacement therapy Cerezyme (imiglucerase).

’The news that NHS England will fund an oral treatment for type 1 Gaucher disease in England will be welcomed within the Gaucher community,” comments Tanya Collin-Histed, chief executive of Gauchers Association, UK.

“With this decision patients in England, in consultation with their Gaucher Consultant, will be able to choose a treatment that best suits their needs. Having the option of either oral or IV therapy available on the NHS will give many patients access to a new therapeutic opportunity.”

Final guidance is expected later this month.