NHS patients in England with a rare genetic disease that causes tumours in major organs, including the brain and spine, can now benefit from the first-ever therapy which could shrink their tumours to help them avoid high-risk surgery.

In clinical trials of belzutifan, 95% of patients did not experience any growth in their tumours in two years of taking the treatment, and 56% of patients’ tumours shrunk.

Belzutifan, a take-at-home pill, is available for those with von Hippel-Lindau disease on the NHS in England from today (Thursday 5 September), following a positive recommendation from the National Institute for Health and Care Excellence (NICE) enabled by an NHS England commercial deal with manufacturer MSD UK.

Around 800 people in England live with von Hippel-Lindau (VHL) disease, a rare, life-long and incurable disorder which causes multiple, malignant and benign tumours in major organs around the body.

Currently, the only treatment available is invasive surgery or radiotherapy, and people with VHL usually need multiple surgeries throughout their lives.

Because of the location of tumours in the brain, spinal cord, eyes, pancreas and kidneys, procedures to remove tumours are often high-risk, and can have life-changing consequences, including paralysis, loss of vision, diabetes, or the need for life-long dialysis.

The new, oral drug is another treatment option for patients which could help people avoid high-risk surgeries.

It is estimated around 100 people could benefit from belzutifan in the first year, and around 50 people per year thereafter, with this ground-breaking drug being available with managed access through the NHS England’s Cancer Drugs Fund, while further evidence is gathered.

 Ella Fox-Stillwell, a 26-year-old nurse from Worthing in Sussex, comes from a family where three generations have been affected by VHL. She said: “I was diagnosed with VHL when I was six years old after my grandmother died from an inoperable brain tumour when she was 32, and my father was later diagnosed with a brain tumour resulting in my sisters and I being genetically tested, and diagnosed.

“VHL is a draining experience, both physically and mentally, and not knowing what is around the corner for me and my family is incredibly challenging.

“This drug could change our lives – my dad has this year been diagnosed with an inoperable brain tumour, just like his mum – and my sister has a tumour on her pancreas. It would allow us to live a life with hope and plan for our futures, knowing there is a new option of treatment out there for us when surgery is not a choice.

Professor Peter Johnson, NHS National Clinical Director for Cancer, said: “This inherited illness is a shadow which hangs over entire families, who live with the fear of tumours growing and needing major surgery on many occasions.

“This new drug, taken as a tablet, is the first of its kind for this terrible condition, and patients with von Hippel-Lindau syndrome now have a different treatment option, which they can take in the comfort of their homes if they need it.

“It promises to improve the quality of life not just for those facing this disorder, but their families and carers too, and is a huge step forward in the treatment of this disease.”

On average, people with von Hippel-Lindau disease do not live past their early 60s, with tumours in the brain and spinal cord being the leading cause of death.

Belzutifan, which is manufactured by MSD UK, is taken as a tablet three times a day and targets and controls three different types of tumours at the same time.

The genetic condition causes an abundance in proteins that can starve cells of oxygen, which leads normal cells to transform into tumour cells. Belzutifan stops this protein from starving cells of oxygen and prevents the growth of tumours.

Research into the genetic disease and this oxygen-starving protein in cancer development won the Nobel Prize for Physiology and Medicine in 2019, with belzutifan becoming the first available treatment that inhibits the protein from starving cells of oxygen.

Rachel Amner, 49, from South East London, is one of nine in her family with VHL, across four generations. She said: “My grandfather was blinded by VHL tumours before dying from a brain tumour. Between myself and four family members with VHL, we’ve had over 20 major surgeries, including 12 brain surgeries, three spinal surgeries, the removal of a kidney, pancreas and three eyes removed – my cousin lost both and is now totally blind.

“Living with VHL means that our family lives with the anxiety of not knowing where the next life-changing blow is coming from. Every single major lifestyle adjustment we have made due to invasive VHL surgery, from blindness to poor mobility, is a challenge we live with every day. Belzutifan gives us the reassurance of stabilising our conditions without crushing our life hopes with further tumour diagnoses.”

Chair of VHL UK/Ireland, Graham Lovitt, said: “We are delighted by NICE’s recommendation of belzutifan (Welireg) under the managed access agreement, a significant milestone in the fight against this rare disease.

“This decision brings hope to patients and their families, offering them an alternative treatment option, where others become too high risk. VHL UK/Ireland remains committed to supporting those affected by the condition and helping everyone who can benefit from this breakthrough medicine to access it.”

Benson Fayehun, Head of Oncology at MSD UK, said: “We are delighted that eligible patients in England and Wales will be able to access belzutifan. VHL disease is a complex and devastating genetic condition, with patients often acting as carers for their family members, who may also have a VHL diagnosis. Until now, these patients have had few treatment options, typically limited to invasive procedures. This decision provides a welcome option for patients, reducing the need for and impact of numerous surgeries.”