Young people with the same rare colon cancer that afflicted Dame Deborah James are calling on health chiefs to allow them to undergo experimental treatments that could buy them valuable extra time.
Bowel cancer affects more than 42,000 Britons each year and patients are usually over 50, but one in 10 has a type caused by the BRAF V600E genetic mutation that often affects younger people.
This form of the disease is incurable and often aggressive, and standard chemotherapy and other drugs used to slow the spread of tumors quickly become ineffective. The average survival is 12 months.
Diagnosed with BRAF V600E colon cancer in 2016, Dame Deborah built a huge social media following, going by the name Bowelbabe, as she documented her progress and raised awareness of the disease and its symptoms until her death last year.
Currently, there are at least ten clinical trials of new drug treatments for BRAF V600E colon cancer, but most of them are conducted in the US. Only one of these is open to UK patients.
‘DISAPPOINTING’: Clare Mariconda, 40, who was diagnosed in December 2020, hopes a trial will allow her more time with her four-year-old daughter, Bethan, and husband, Antonio
Dame Deborah James, 40, was diagnosed with BRAF V600E colon cancer in 2016 and built up a huge social media following, raising awareness of the disease until her death last year
Patient group Breaking BRAF speaks of a ‘terrifying’ situation and has made an urgent plea for policymakers to fund clinical trials that may offer some hope.
What’s the difference… between visceral and subcutaneous fat?
Visceral fat is a type that is usually hidden. It is stored in the abdomen and wraps around the organs, including the liver and kidneys.
Too much of it increases your risk of developing serious diseases, including Alzheimer’s disease, heart disease and type 2 diabetes.
Waist size can be an indicator of too much visceral fat. Women are considered to be at high risk for chronic disease if theirs is more than 31.5 inches (80 cm) or 37 inches (94 cm) for men.
Subcutaneous fat is stored in the deepest layer of skin and is the most abundant in the body. It mainly collects around the hips, buttocks, thighs and abdomen and is considered less harmful than visceral fat.
It helps store energy and protects bones from falls. It also insulates the body, which helps regulate temperature.
“There’s a lot of research being done worldwide, but very little in the UK,” a spokesman said. ‘Patients are missing out on potentially transformative therapies. Time is running out for young families who have the devastating BRAF mutation.”
Bowel cancer specialist Dr Andy Gaya of The London Clinic said the situation was ‘very frustrating’, adding: ‘This is a group of patients with an aggressive cancer and a high unmet need. I would like to see funding and resources earmarked to enable us to conduct clinical trials of treatments.”
There was excitement last year when US doctors announced that a trial of BRAF V600E patients who received encorafenib and cetuximab – already standard treatments available on the NHS – plus a type of immunotherapy called nivolumab survived an average of 15 months, compared to nine months on standard drugs alone .
Half of the patients responded to the three-drug combination, compared with only one in five of those who received encorafenib and cetuximab alone.
Dr. Gaya said the trial was “tempting” but added: “It was only 23 patients and these early phase studies include only the healthiest, most likely to be able to withstand any side effects, so we have to be careful are interpreting the results. A larger trial is being done, but unfortunately it’s not in the UK.’
While any doctor can apply to offer medication as part of a trial, the process is complex and requires additional staff to monitor patients.
For this reason, NHS Trusts conduct few of these studies. Cancer Research UK has clinical trial units, but closed two earlier this year – one in Scotland and one in Wales – leaving just six for the UK. The charity has spent resources on early-stage laboratory research, but it usually doesn’t involve patients.
All clinical trials have been halted during the Covid pandemic and experts admit there are difficulties getting them up and running again.
Bowel cancer affects more than 42,000 Britons each year and patients are usually over 50, but one in 10 has a type caused by the BRAF V600E genetic mutation that often affects younger people
Dr. Gaya said reducing NHS waiting lists and backlogs took precedence over research: ‘It takes a lot of extra time and resources to run a trial, and since the pandemic a lot of my colleagues are just trying to keep their heads above water.’
The immunotherapy drug that proved successful in the US trial, nivolumab, works by helping the immune system recognize and attack tumor cells. It is offered on the NHS for melanoma, skin cancer, kidney and lung cancer, as well as some other more rare genetic forms of bowel cancer.
Professor Marco Gerlinger, head of gastrointestinal cancer medicine at the Barts Cancer Institute, said: ‘Whether it will work for BRAF V600E bowel cancer is not yet clear. Clinical trials will tell us whether the benefits outweigh the risks.”
Side effects of immunotherapy can include immune system reactions, liver problems, joint and muscle pain, and blisters on the skin. But some BRAF V600E patients say they’re willing to take the chance.
Clare Mariconda, 40, who was diagnosed in December 2020, is one of them.
“I had 12 months of chemo, but the cancer spread to my liver, so I switched to encorafenib and cetuximab,” says Clare, who lives in Cambridge with husband Antonio, 41, and daughter Bethan, four.
“It kept the cancer under control for six months, but then tumors started appearing in my bones — my spine, collarbone, and knee.
‘A year ago I had chemo again, but if this no longer works, it is unclear what will come next.
“I try to stay in the moment and appreciate what I have, but it’s a challenge.
“We hear about trials in America, but not here — it’s disappointing. I know I won’t heal, but I have a daughter who is almost five. I want to kick the can onto the road as long as possible.”