Everything you need to know about agonising sickle cell disease and the ‘revolutionary’ new DNA therapy that’s being rolled out on the NHS for free to patients
The NHS is rolling out a “revolutionary” gene therapy which effectively cures agonising sickle cell disease.
Sickle cell is the fastest growing genetic condition in the UK where red blood cells are sickle shaped rather than circular. This leads to agonising blockages that damage organs and can lead to blindness or a fatal stroke. Now a £1.6million gene editing treatment will be offered to some of the worst affected offering hope of a “functional cure” and a disease-free life.
Sickle cell blockages are so painful that more severely affected patients can be prescribed morphine – more typically given during end of life care – just to get them through the day.
NHS chief executive, Amanda Pritchard, said: “More than a step, this is a leap in the right direction for people with sickle cell disease – which can be an extremely debilitating and painful condition. This innovative, gene-editing therapy offers hope of a cure for people facing a severe form of the disease and could be absolutely transformative. It could enable patients to live free from the fear of sickle cell crises hanging over them.”
The one-off gene therapy exagamglogene autotemcel, or ‘exa-cel’, has been approved by the National Institute for Health and Care Excellence (NICE) and will initially be given to around 50 patients a year aged over 12 with the most severe form of the disease. Research suggests it is a ‘functional cure’ in 96.6% of patients.
Mehmet Tunc Onur Sanli, 42, from London, He said: “I suffer from regular sickle cell crises. Last year, I had to go to the hospital at midnight after waking up in severe pain, and overall, I had to visit the hospital five or six times due to crises. The pain is the worst I have ever felt in my life – it’s hard to put into words.”
Mehmet was diagnosed with sickle cell disease aged 11 and because of his condition underwent surgery on his spleen aged six and needed a hip replacement at 22. He explained: “I was diagnosed with sickle cell disease when I was 11 years old. Before that, doctors in Turkey, where I’m originally from, mistakenly diagnosed me with another blood disorder, Thalassemia.
“Until I moved to the UK, I had many blood transfusions, but my treatment changed here. Now I am part of a red cell exchange programme. Every six weeks I go to the hospital for the procedure which takes a few hours and helps me manage my condition. Because of my illness, I often experience pain in my chest, bones, and muscles. I had surgery on my spleen when I was six and a hip replacement at 22. I will probably need another hip replacement in the next few months or years.
“Not having to go to hospital for regular transfusions or taking medicine anymore would be a dream to me – gene therapy could offer that – but there’s still a lot to consider in terms of the side effects that could come with this treatment and whether it would be the right choice for me.”
How It Works
Exa-cel uses Nobel Prize-winning CRISPR “gene cutting” technology to edit sufferers faulty DNA. Blood stem cells from the bone marrow are removed from a patient’s body and edited in a laboratory and the treated cells are then returned to the patient via an infusion.
Professor Bola Owolabi, director responsible for healthcare inequalities at NHS England, said: “This represents a monumental step forward in the treatment of people with sickle cell disorder, which is a condition that mostly affects people of Black African and Black Caribbean heritage. This groundbreaking therapy, available on the NHS, represents a very real prospect of a cure for this devastating disorder.”
Sickle cell disease mainly afflicts people with Afro-Caribbean heritage and to survive they need to undergo regular blood transfusions to switch out faulty blood cells. The Mirror has reported on shortages of ethnically matched blood donors as part of our Give a Pint, Save a Life campaign. We revealed that some of former England striker Emile Heskey’s children carry the faulty gene.
In England alone there are around 15,000 people living with sickle cell disease with 250 new cases a year. NHS data shows there were 32,000 hospital admissions in England in 202324 for sickle cell disorders and 14,000 were admissions for sickle cell anaemia crises. A survey from the Sickle Cell Society found in the previous two years 24% of patients had spent one to two weeks in hospital. However exa-cel trials showed patients who received it avoided a hospitalisation for a year following treatment and almost 98% had still avoided hospitalisation around 3.5 years later.
The NHS will initially only offer the treatment as part of a managed access agreement for patients who experience recurrent sickle cell crises and would be suitable for a stem cell transplant but where a donor is not available.
Dr Samantha Roberts, NICE chief executive, said: “Exa-cel could represent a potential cure for some people with severe sickle cell disease, freeing people from the burden of complications as well as addressing NICE’s aim of reducing health inequalities associated with the condition and getting the best care to patients fast.”
The list price of the treatment is £1.65 million but NHS England has struck a deal to access the treatment at a reduced price for taxpayers, enabling it to be offered through the Innovative Medicines Fund, which fast-tracks funding for new medicines. More data will be collected while patients receive the treatment before NICE evaluates its benefits and whether it is cost effective for the NHS to offer it to more patients.
Public Health Minister Andrew Gwynne, said: “This groundbreaking treatment is a fantastic example of how, by harassing the power of technology, the UK is leading the world in offering patients the latest treatments for a wide range of conditions.”
John James OBE, CEO of the Sickle Cell Society, said: “We are absolutely thrilled to see this groundbreaking gene therapy treatment available on the NHS from today. The significance of this milestone for the sickle cell community cannot be understated.”
