It’s a new treatment, but the results we have suggest it is potentially a cure for sickle cell.
By Toby Bakare
The decision to have a stem cell transplant was one I had to think long and hard about. Would my body be able to cope with the necessary radiotherapy to lessen my immune system? Would the transplant work? What would it look like to have a successful stem cell transplant? Would it be a cure for my sickle cell disease?
It was a decision I could think about making because my sister was a genetic match and could donate her stem cells. Most with sickle cell don’t have that option. It’s a decision that is open to many more people with sickle cell now that NICE has given the go ahead for Exa-cel (Casgevy) treatment to be used to treat those with severe sickle cell disease in England. Exa-cel (sometimes called CRISPR) is stem cell treatment that doesn’t require a sibling donor match. And the new treatment has been welcomed by the 15,000 people in the UK living with sickle cell.
Sickle cell is a genetic blood disorder which turns healthy round blood cells a crescent moon – or sickle – shape. Symptoms include severe episodes of pain (known as a crisis), severe fatigue, strokes and organ failure. The current treatments on offer are limited in number and scope and many are forced to rely on regular blood transfusions.
The Exa-cel gene therapy treatment is at the forefront of medical technology. It takes the person’s DNA and “edits” out the faulty sickle gene. It’s expensive, too. According to the manufacturer, Vertex, it costs £1.65 million per patient. But the NHS has negotiated a discount which is kept confidential.
The benefits of this type of stem cell therapy are potentially huge. 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 three and a half years later. We don’t have much data beyond that; it’s still such a new treatment. But the results we do have suggest this type of treatment is potentially a cure for sickle cell.
Whilst thousands are living with the disease, it won’t be widely available from the start. It’s being offered on a managed access agreement (something similar was done when exa-cel was approved for beta-thalassemia sufferers). To be eligible, sufferers will need to have two or more painful crises in a year. It’s believed that around 50 people will receive the Exa-cel treatment yearly.
Since my transplant in 2022, I’ve said goodbye to painful crisis episodes that had left me in hospital countless times since I was a child. I’m now cycling to work where before running for the bus would leave me breathless. My quality of life has gone up massively. It’s been a long journey with ups and downs, but it’s one I’m happy to have undergone to be effectively cured. It’s now a possibility for many more people with sickle cell.
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.”
John James, chief executive 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. It was achieved after we staged a long and determined campaign, and today’s result will give hope to many.
“While today’s news is incredible, we remain acutely aware that not everyone with sickle cell will be eligible for the potentially life-changing benefits of Casgevy.”
NHS England 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.”
