Hundreds of patients with a serious blood disorder have been given hope of a cure after the NHS announced the imminent availability of a ‘life-changing’ gene therapy.
According to experts, Casgevy, which costs £1.65 million per treatment, fixes a faulty gene in patients’ bone marrow stem cells, eliminating the need for regular blood transfusions and increasing life expectancy.
It is approved for use in patients with severe beta-thalassemia when bone marrow transplantation is not possible.
Health leaders called it a “historic moment” for people with the life-limiting condition as the UK became the first country in Europe to offer the treatment.
Transfusion-dependent beta-thalassemia (TDT) is a serious inherited blood disorder that requires lifelong transfusions of red blood cells for survival.
It is caused by mutations in the beta-globin gene, which affects the body’s production of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.
Patients with a serious blood disorder have been given hope of a cure after the NHS made available a ‘life-changing’ gene therapy (file photo)
Exagamglogene autotemcel, also called exa-cel, is recommended by Nice for the treatment of patients aged 12 years and older with the disease.
Created by Vertex, it works by modifying a faulty gene in the patient’s bone marrow stem cells. These modified cells are then injected back into the patient as a one-time treatment, allowing the body to produce functioning hemoglobin.
Amanda Pritchard, chief executive of NHS England, said: ‘This is a historic moment for people living with beta thalassaemia. The NHS now offers a potential cure for people with this debilitating condition.
‘Normally, patients experience painful side effects and receive frequent blood transfusions, which has a major impact on their quality of life. However, this therapy offers people a life without side effects and the hope of living longer. That is really great news.’
The treatment is the first to license the gene-editing tool Crispr, which earned its inventors the 2020 Nobel Prize in Chemistry.
Previously, a donor stem cell transplant was the only curative treatment currently available in the UK for people with TDT.
It was recommended by Nice as part of the Innovative Medicines Fund (IMF), which will allow more data to be collected on clinical effectiveness and cost-effectiveness.
The list price for a course of Casgevy is £1.65 million, although its makers, Vertex, are understood to have agreed a discount for NHS use.
The program will be directly funded and rolled out to up to 460 eligible patients.
The therapy, developed by Vertex, works by modifying a defective gene in the patient’s bone marrow stem cells
Helen Knight, director of medicines evaluation at Nice, said: ‘Although there are still some uncertainties in the evidence about the long-term benefits, the committee felt that exa-cel could be a potential cure for some people with transfusion-dependent beta-thalassaemia, relieving them of the burden and risks associated with 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, of whom an estimated 800 people with the severe form of the condition rely on regular blood transfusions.
The disorder requires lifelong treatment and can have a major impact on quality of life, with people suffering from anemia, chronic pain and many also reporting psychological effects such as anxiety and depression. People with the condition typically do not live past the age of 50.
