By Kate Pickles Health Editor For The Daily Mail
Published: | Updated:
Hundreds of sufferers of a severe blood disorder have been give hopes of a cure as ‘life-changing’ gene therapy is set to be made available on the NHS.
Experts say Casgevy - which costs £1.65million per treatment - fixes a faulty gene in the patient’s bone marrow stem cells, stopping the need for regular transfusions and improving life expectancy.
It has been approved for use in patients with severe beta-thalassaemia when no bone marrow transplant is available.
Health leaders said it was a ‘historic moment’ for those with the life-limiting condition, with the UK becoming the first country in Europe to offer the treatment.
Transfusion-dependent beta thalassemia (TDT) is a severe inherited blood disorder that requires lifelong red blood cell transfusions to survive.
It is caused by mutations in the beta-globin gene, which affects the body’s production of haemoglobin, a protein in red blood cells that carries oxygen throughout the body.
Sufferers of a severe blood disorder have been given hope of a cure as 'life-changing' gene therapy has been made available on the NHS (file photo)
Casgevy, made by Boston-based Vertex Pharmaceuticals (pictured) and Crispr Therapeutics in Switzerland, works by editing the faulty HBB gene behind both conditions in a patient's bone marrow stem cells so the body produces functioning hemoglobin
Exagamglogene autotemcel, or exa-cel as it is otherwise known, has been recommended by Nice to treat patients aged 12 and over with the disease.
Made by Vertex, it works by modifying a faulty gene in the patient’s bone marrow stem cells. These edited cells are then infused back into the patient as a one-off treatment, allowing the body to produce functioning haemoglobin.
How doesCasgevy work?
Casgevy, made by Boston-based Vertex Pharmaceuticals and Crispr Therapeutics in Switzerland, works by editing the faulty 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 taken out of a patient's bone marrow and edited in a laboratory using molecular 'scissors', which precisely disable the faulty gene.
Stem cells are then infused back into the patient, who mayneed to spend a month or longer in the hospital while the treated cells start to make healthy red blood cells.
The results have the potential to be life-long.
An ongoing trial of the drug so far shows that 97 percent of sickle cell patients were free from severe pain for at least one year after treatment.
In a separate study for β-thalassaemia, 93 percent of participants did not need a blood transfusion for at least one year. Among those who did, their need for transfusions fell by 70 percent.
Side effects included nausea, fatigue, fever and increased risk of infection.
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Amanda Pritchard, NHS England chief executive, said: ‘This is a historic moment for people living with beta thalassaemia with a potential cure for those facing this debilitating disorder now available on the NHS.
‘Ordinarily, patients experience painful side-effects and undergo regular transfusions which severely impact their quality of life, but this therapy offers people a life free from that as well as the hope of living longer, which is truly amazing news.’
The treatment is the first to be licensed using gene-editing tool Crispr, which earned its inventors the Nobel Prize for chemistry in 2020.
Prior to this, the only curative treatment currently available for people with TDT in the UK was a donor stem cell transplant.
It was recommended by Nice as part of the Innovative Medicines Fund (IMF), which will allow more data to be harnessed on its clinical and cost effectiveness.
The list price for a course of Casgevy is £1.65million, although it is understood its makers Vertex agreed a discount for NHS use.
It will be funded immediately and be rolled out to up to 460 eligible patients.
Helen Knight, director of medicines evaluation at Nice, said: ‘Although there are some uncertainties in the evidence for its long-term benefits, the committee felt exa-cel could represent a potential cure for some people with transfusion-dependent beta-thalassaemia, freeing them from the burden and risks of needing regular blood transfusions.’
Earlier this year, the drug was turned down as a treatment for sickle cell disease amid cost-effectiveness concerns.
There are around 2,300 people with thalassaemia in the UK, with an estimated 800 people with the severe form of the condition that rely on regular blood transfusions.
The disorder requires lifelong treatment and can greatly impact on quality of life, with people suffering from anaemia, chronic pain and many also reporting psychological impacts, such as anxiety and depression. Those with the condition typically do not live beyond their 50s.
IMF
