Hundreds of patients with a serious blood disorder have been given hope of a cure after a life-changing gene therapy is now available on the NHS.
Experts say Casgevy (which costs £1.65m per treatment) corrects a faulty gene in a patient’s bone marrow stem cells, eliminating the need for regular transfusions and improving life expectancy.
It has been approved for use in patients with severe beta-thalassemia when a bone marrow transplant is not available.
Health leaders said it was a “landmark 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 serious 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 hemoglobin, a protein in red blood cells that carries oxygen throughout the body.
People suffering from a serious blood disorder have been given hope of a cure thanks to a “life-changing” gene therapy available on the NHS (file photo)
Casgevy, made by Boston-based Vertex Pharmaceuticals (pictured) and Crispr Therapeutics in Switzerland, works by editing the defective HBB gene that causes both conditions in a patient’s bone marrow stem cells so that the body produces functional hemoglobin.
Nice has recommended exagammaglobulina autotemcel, or exa-cel as it is also known, to treat patients aged 12 years and older with this disease.
Manufactured by Vertex, it works by modifying a faulty gene in the patient’s bone marrow stem cells. These modified cells are then infused back into the patient as a one-time treatment, allowing the body to produce functional hemoglobin.
Amanda Pritchard, chief executive of NHS England, said: ‘This is a landmark moment for people living with beta thalassaemia as a potential cure for those facing this debilitating disorder is now available on the NHS.
‘Normally, patients experience painful side effects and undergo regular transfusions that severely impact their quality of life, but this therapy offers people a life free of that, as well as the hope of living longer, which is truly amazing news.’
The treatment is the first to be approved using the gene-editing tool Crispr, which earned its inventors the Nobel Prize in Chemistry in 2020.
Prior to this, the only curative treatment currently available for people with TDT in the UK was a stem cell transplant from a donor.
It was recommended by Nice as part of the Innovative Medicines Fund (IMF), which will allow more data on its clinical and cost-effectiveness to be used.
The list price for a Casgevy treatment is £1.65m, although its makers, Vertex, are understood to have agreed a discount for use on the NHS.
It will be funded immediately and extended to a maximum of 460 eligible patients.
Helen Knight, director of medicines appraisal at Nice, said: “Although there are some uncertainties in the evidence of its long-term benefits, the committee considered that 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 rejected as a treatment for sickle cell disease due to concerns about its cost-effectiveness.
There are around 2,300 people with thalassaemia in the UK, with an estimated 800 suffering from the severe form of the condition and dependent on regular blood transfusions.
The disorder requires lifelong treatment and can significantly affect quality of life. Affected individuals suffer from anemia, chronic pain, and many also experience psychological effects such as anxiety and depression. People with the condition typically do not live beyond the age of 50.
