Sanofi’s Cerdelga can now be funded on the NHS in England and Wales to treat type 1 Gaucher disease, after cost regulators issued final guidance backing ‘routine’ use of the therapy.

It is estimated that there are around 250 people in England and Wales living with the disease, of which up 100 could be eligible for treatment as per Cerdelga’s (eliglustat) license, that is for long-term treatment in adults who are cytochrome P450 2D6 poor, intermediate or extensive metabolisers.

Gaucher disease is a very rare, potentially life-threatening inherited lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase, which leads to the inappropriate storage of complex lipids in some types of cell. 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,” Sanofi has previously noted, underscoring the need for new treatment options.

Unlike enzyme replacement therapy, Cerdelga is a substrate reduction therapy that partially inhibits 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, haemoglobin levels, and liver volume, and also showed non-inferiority to the enzyme replacement therapy Cerezyme (imiglucerase).

Earlier this year NICE published provisional guidelines rejecting the drug’s use because of cost, but the offer of an improved patient access scheme from the company, which made Cerdelga cheaper than the current standard NHS treatment for the condition, helped changed the Institute’s position.