Hope for thousands battling two deadly blood disorders as UK approves world-first ‘cure’: £1million-drug allows sufferers to feel ‘born again’
Thousands of Britons suffering from two blood diseases could receive a unique treatment that could potentially cure them.
Casgevy has today been approved by the UK medicines watchdog for all children over 12 years of age following ‘rigorous’ checks on safety, quality and effectiveness.
The drug, which is expected to cost around £1 million per patient, treats sickle cell disease and transfusion-dependent β-thalassemia – painful, lifelong conditions that can be fatal in severe cases.
Experts say the gene editing treatment works as a ‘functional cure’ for both conditions, removing the faulty gene relieving symptoms.
However, it will only be rolled out on the NHS if it receives further approval from the National Institute for Health and Care Excellence (Nice).
Patients with sickle cell disease, of which there are around 15,000 in Britain, do not properly produce hemoglobin – a substance in red blood cells, which transport oxygen around the body. As a result, their red blood cells become stiff and form a crescent shape instead of a disk (pictured), which can cause them to die and become stuck in blood vessels.
Jimi Olaghere, 36, living in the US, suffered from sickle cell disease since childhood and was hospitalized almost every month
Both genetic conditions are caused by errors in the genes for hemoglobin, which is used by red blood cells to transport oxygen throughout the body.
Patients with sickle cell disease, of which there are around 15,000 in Britain, do not properly produce hemoglobin – a substance in red blood cells, which transport oxygen around the body.
As a result, their red blood cells become stiff and form a crescent shape instead of a disk, which can cause them to die and become stuck in the blood vessels.
Patients experience attacks of severe pain that can last days or weeks, serious and life-threatening infections, and anemia, which can cause fatigue and weakness.
About 1,000 Britons have transfusion-dependent β-thalassemia. This group has a shortage of healthy red blood cells, which leads to severe anemia.
They often require monthly blood transfusions to survive and require lifelong injections and medications. If left untreated, the condition can cause organ damage and be fatal.
Casgevy, made by Boston-based Vertex Pharmaceuticals and Crispr Therapeutics in Sweden, works by editing the defective HBB gene behind both conditions in a patient’s bone marrow stem cells so that the body produces functioning hemoglobin.
To do this, stem cells are extracted from a patient’s bone marrow and processed in a laboratory using molecular ‘scissors’ that precisely switch off the defective gene.
Stem cells are then injected back into the patient, who may have to spend a month or more in the hospital while the treated cells start making healthy red blood cells.
The results have the potential to be lifelong, it is thought.
An ongoing study of the drug to date shows that 97 percent of sickle cell patients were free of severe pain for at least a year after treatment.
In a separate study of β-thalassemia, 93 percent of participants did not require a blood transfusion for at least a year. Among those who did, their need for transfusions dropped by 70 percent.
Side effects included nausea, fatigue, fever and an increased risk of infection.
No significant safety issues have been identified, but the Medicines and Healthcare products Regulatory Agency (MHRA) and the drug manufacturers will continue to monitor patients.
Casgevy is the first licensed drug to use the innovative gene-editing tool CRISPR, known as ‘genetic scissors’, which allows scientists to make precise changes to DNA. Its inventors received the Nobel Prize in 2020.
Until now, a bone marrow transplant from a closely matched donor has been the only long-term treatment for the two blood disorders.
However, they are not often performed because of the risks, including the transplanted cells attacking other cells in the body, which can be life-threatening.
Julian Beach, interim director of quality and access to healthcare at the MHRA, said: ‘I am pleased to announce that we have authorized an innovative and unique gene editing treatment called Casgevy.’
He added: ‘The MHRA will continue to closely monitor the safety and effectiveness of Casgevy, through real-world safety data and post-authorisation safety studies conducted by the manufacturer.
‘I would like to thank the lived experience patients who worked with us as part of the review process and gave us valuable insight into their lives and the challenges of managing their condition.’
John James OBE, CEO of the Sickle Cell Society, said: ‘Sickle cell disease is an incredibly debilitating condition, causing significant pain for those living with it and potentially leading to premature death.
‘There are currently limited medicines available to patients, so I welcome today’s news that a new treatment has been assessed as safe and effective, which has the potential to significantly improve the quality of life for so many.’
Drugmakers have not yet revealed the price of Casgevy, but based on the price of similar drugs it would cost more than £1 million.
This could make it too expensive for approval in Britain.
Reality TV star Rosie Williams, from Glamorgan in Wales, has previously shared her battle with thalassemia minor – a less severe version of transfusion-dependent β-thalassemia
Casgevy, made by Boston-based Vertex Pharmaceuticals (pictured) and Crispr Therapeutics in Sweden, works by editing the defective HBB gene behind both conditions in a patient’s bone marrow stem cells so that the body produces functioning hemoglobin.
In 2021, Nice rejected the gene therapy Zynteglo, made by American Bluebird Bio, for the treatment of transfusion-dependent β-thalassemia.
It concluded that the studies were too small and that the £1.45 million per patient price tag was too high. However, that drug was approved in the US last year.
Jimi Olaghere, 36, who lives in the US, suffered from sickle cell disease since childhood and was hospitalized almost every month.
The technology entrepreneur told the BBC that the condition felt like “shards of glass running through your veins or someone taking a hammer to your joints.”
“You wake up in the morning in pain and you go to bed in pain,” he said.
However, Mr Olaghere became one of the first patients to undergo the revolutionary new gene editing treatment as part of Vertex Pharmaceuticals and Crispr Therapeutics clinical trials in the US in 2020.
He said he woke up with no pain and it was “like being born again.”
‘I look back and think, “Wow, I can’t believe I lived with that.”‘
Reality TV star Rosie Williams, from Glamorgan in Wales, has previously shared her battle with thalassemia minor – a less severe version of transfusion-dependent β-thalassemia.
She said: ‘It’s the kind of fatigue where you can’t function, you’re too tired to talk or eat and it makes me very sensitive to pain.
“If I catch my finger in a door or bump my knee, the pain can make me feel faint.”
Dr. Sara Trompeter, consultant haematologist at UCLH and NHS Blood and Transplant, said: ‘Sickle cell disease is a very complex, life-limiting and life-threatening condition with very limited treatment options.
‘While curative treatments may not be suitable for everyone, gene therapy offers a real chance of a cure for those who are not eligible for bone marrow transplants and that is why we are pleased that it has been approved by the MHRA.
‘We look forward to NICE approval so this can be delivered free to patients in the NHS.’