The National Institute for Heath and Care Excellence (NICE) has provisionally backed the first drug ever approved for desmoid tumours in a decision described by campaigners as a landmark moment for a rare and often overlooked condition.
Nirogacestat, a once-daily tablet, has been recommended by NICE’s technology appraisal committee as a treatment option for adults with progressing desmoid tumours who need systemic treatment. Some patients have reported being able to come off morphine-based painkillers within a week of starting the drug.
Desmoid tumours are rare, locally aggressive tumours that grow in the body’s connective tissue. Although they don’t spread to other organs in the way most cancers do, they can cause severe pain, disfigurement and loss of mobility as they grow into surrounding muscle, nerves and blood vessels. They affect all age groups but are most common in young adults, particularly women. Until now, treatment has relied on surgery, radiotherapy and various systemic therapies used off-label, with limited effectiveness, and no drug had ever been specifically approved to treat them.
Nirogacestat works by blocking an enzyme called gamma secretase, switching off a signalling pathway that drives the tumours to grow. Clinical trial data showed the drug reduced the risk of tumour progression by more than 70 per cent compared with placebo.
Sam Hackett, Sarcoma UK Nurse and Healthcare Professional Lead, said: “I have cared for people with desmoid tumours for more than 30 years, first as a Sarcoma Clinical Nurse Specialist at a specialist centre and for the past ten years through the Sarcoma UK Support Line.
“I know that desmoid tumours can affect every aspect of a person’s quality of life. They can cause severe pain, disrupt sleep, make it difficult to work and significantly affect mobility. Nirogacestat is the first treatment specifically developed for people with desmoid tumours. Its availability is a hugely significant moment for the desmoid community. We are extremely grateful to everyone affected by a desmoid tumour who shared their experiences and contributed to Sarcoma UK’s joint submission with Desmoid Aid UK. Their voices helped make the case for NICE approval, so that this treatment can be made available on the NHS.”
Jacqui Black, the founder of Desmoid Aid UK which offers information and grants to people affected by desmoid-type fibromatosis in the UK, said: “We very much welcome this decision, and timely too given that September is Desmoid Tumour Awareness Month. The news offers real hope to people affected by desmoid tumours.
“Described in clinical terms as non-malignant, for people living with them they are anything but benign, affecting a person’s quality of life, often at stages of life when they are building careers, relationships and families. They require life-long monitoring and cause chronic pain, visible disfigurement and restrict mobility. We are hugely grateful to have worked alongside Sarcoma UK on the joint submission to NICE.”
Inga Abramian is a 39-year-old from Putney who was diagnosed with fibromatosis over a decade ago. She said: “Living with a condition that affects only three people in a million has proven to be incredibly challenging both physically and mentally. The very limited treatment options that are used to manage fibromatosis have all been developed to treat other conditions and often carry minimal benefits.
“The approval of nirogacestat truly marks a historical shift in the management of fibromatosis as the first ever treatment to target this disease. After decades of limited management options, this is a significant win for the patient community. We finally have access to medication with positive, lasting results that was developed specifically for us. I’d like to thank Merck and Springworks for giving fibromatosis patients a real treatment with real benefits.”
NICE’s Final Draft Guidance on nirogacestat is expected to be published shortly, after which the drug will become available to eligible NHS patients in England.
