The Cyprus-based Thalassaemia International Federation (TIF) on Friday hailed the landmark announcement by UK regulators approving a revolutionary gene-editing treatment for beta thalassemia and sickle-cell disease “and ushering in a new era in genetic medicine and science”.
TIF is an umbrella organisation comprised of 98 national thalassaemia associations from 60 countries, representing hundreds of thousands of patients worldwide.
Data indicate that 15 per cent of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10 per cent of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian population, according to the US National Institutes of Health. It is estimated that there are around 650 beta thalassaemic patients in Cyprus aged between 33 and 55 with around 18 being treated for sickle cell disease.
Thalassaemia requires frequent blood transfusions for life, also affects quality of life and results in premature deaths.
The new therapy, as announced in the UK on Thursday is called Casgevy and utilises a gene-editing tool as Crispr to manipulate the DNA of beta thalassaemia and sickle cell disease sufferers.
During the course of the treatment, the bone marrow of sufferers is extracted. Casgevy then uses molecular scissors to make precise cuts in the DNA of cells, disabling the faulty gene.
The modified cells are then infused back into the sufferer’s bloodstream. This, in turn, enables the body to begin producing functioning haemoglobin.
Crispr’s creators, scientists Emanuelle Charpentier and Jennifer Doudna, won a Nobel prize in 2020 after developing the tool.
During trials of the drug, 39 of the 42 patients with beta thalassaemia no longer needed blood transfusions for at least a year following treatment. In trials of patients with sickle cell disease, 28 of 29 patients were free of severe pain for a year. The treatment is costly however, with a price tag of more than €1 million for a one-off treatment.
Experts believe that the pharmaceutical company involved in the therapy’s, American firm Vertex, will “want its product used as widely as possible”, and will therefore need to set a price which health services are prepared to pay.
“This is a historic decision for people suffering from thalassemia and sickle cell anaemia that opens new avenues for the radical treatment of these serious inherited diseases,” said TIF Executive Director, Dr Androulla Eleftheriou.
“We congratulate the UK for recognising the therapeutic benefit of the treatment and proceeding with its approval, while we are sure that the regulatory organisations in Europe and America will soon follow this example. As a Federation, we will work with all our strength to promote the access of as many patients as possible to such innovative treatments and ensure them the best quality of life they deserve,” she added.