NHS patients with sickle cell disease will be able to benefit from a groundbreaking gene-editing treatment that offers the prospect of a cure for the condition.
The one-off gene therapy, known as exagamglogene autotemcel (or ‘exa-cel’), has been approved for use on the NHS in England from today (Friday 31 January) by the National Institute for Health and Care Excellence for older children and adults with a severe form of sickle cell disease.
Clinical trials suggest exa-cel can stop painful and unpredictable sickle cell crises – the most common symptom of sickle cell disease – where blood vessels become blocked causing severe pain, with experts saying the therapy offers patients a chance of disease-free life.
Researchers concluded there was a ‘functional cure’ in 96.6% of exa-cel trial participants that received it.
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.
“It is just the latest in a series of revolutionary gene therapies NHS England has secured for patients, and we are funding this new treatment option straight away so patients can benefit from the enhanced quality of life it offers.”
Before the availability of this new one-time treatment, the disease had required lifelong treatment regimens, greatly impacting on quality of life, with people suffering from chronic pain, fear of sickle cell crises, hospitalisation, and shortened life expectancy, and many patients describe it as ‘looming over their daily lives’.
In clinical trials, all patients who received exa-cel also avoided a hospitalisation for a year following treatment – and almost 98% had still avoided hospitalisation around 3.5 years later.
According to NHS data, there were just over 32,000 hospital admissions in England in 2023-24 for sickle cell disorders. Almost 14,000 of these admissions were admissions for sickle cell anaemia crises.
A survey from the Sickle Cell Society found in the past 2 years, before the availability of exa-cel, a quarter (24%) of people with sickle cell disease had spent 1-2 weeks in hospital.
The treatment will be offered at specialist NHS centres in London, Manchester and Birmingham, and follows a deal in August 2024 for the NHS to access exa-cel for eligible patients with transfusion dependent beta-thalassaemia.
It will be available for eligible patients who are 12 years and older who experience recurrent sickle cell crises and would be suitable for a stem cell transplant but where a donor is not available.
In England, there are around 15,000 people living with sickle cell disease – an inherited blood disorder, with 250 new cases a year. It mainly affects people from Black African and Black Caribbean backgrounds.
In sickle cell disease, a gene mutation causes red blood cells to become irreversibly sickle shaped, which can lead to haemolytic anaemia – a blood condition that occurs when your red blood cells are destroyed faster than they are replaced.
Over a long period, the disorder can cause severe organ damage and intense pain if damaged red blood cells block vessels and restrict oxygen supply, which can also lead to strokes and heart failure.
Exa-cel uses Nobel Prize-winning CRISPR technology to enable the editing a gene in a patient’s bone marrow stem cells so that the body produces functioning haemoglobin.
Blood stem cells are removed from a patient’s body and edited in a laboratory using CRISPR technology. The treated cells are then returned to the patient via an infusion.
It is estimated that around 50 patients, suitable for a stem cell transplant but without a matched donor, will receive the cutting-edge treatment each year. Around half the number of children and adults with sickle cell disease receive a stem cell transplant on the NHS each year.
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.
Professor Bola Owolabi, Director of the National Healthcare Inequalities Improvement Programme 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.
“The NHS remains committed to rolling out new, innovative treatments to narrow the gap in healthcare inequalities, and this cutting-edge therapy could give patients facing severe sickle cell disorder the hope of a much brighter future.”
Mehmet Tunc Onur Sanli, 42, from London, was diagnosed with sickle cell disease, aged 11, and said: “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 6 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 6 and a hip replacement at 22. I will probably need another hip replacement in the next few months or years. I also 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 5 or 6 times due to crises. The pain is the worst I have ever felt in my life – it’s hard to put into words.
“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.”
Minister for Public Health, Andrew Gwynne, said: “People living with rare conditions like sickle cell disease face immense challenges, not least accessing tailored therapies for their symptoms.
“This groundbreaking treatment is a fantastic example of how, by harnasing the power of technology, the UK is leading the world in offering patients the latest treatments for a wide range of conditions.
“By offering a treatment that could allow patients to live a life free of debilitating illness, we will give people with conditions like sickle cell disease more freedom and independence, all whilst protecting vital NHS emergency services.”
John James OBE, Chief Executive Officer 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 – today’s result will give hope to many and is the result of determined campaigning.
“We extend our heartfelt thanks to the incredible individuals who shared their personal stories, challenges, and experiences of sickle cell as part of the campaign. Their courage and advocacy played an important role in bringing this new gene therapy treatment to fruition.
“We remain dedicated to our commitment to advocating for improved treatment options and better outcomes for all those affected by this condition. For now, we take a moment to celebrate this historic milestone—a turning point in the fight against sickle cell that promises to change lives for the better.”
Last year, NHS England set the ambition to be a world leader in the adoption of advanced therapies, including gene therapies and personalised cell therapies, and this is the latest in a series of gene therapies the health service has secured, financially enabled by making greater use of low-cost generic and biosimilar medicines.
The therapy is being manufactured in the UK, at a site near Edinburgh.
Ludovic Fenaux, Senior Vice President, Vertex International, said: “We are pleased to have reached this new agreement that ensures both eligible sickle cell disease and TDT patients can now be treated with CASGEVY, recognising the value a one-time treatment can provide to patients, their families and the healthcare system.”
