UK approves potential beta thalassaemia cure

Health authorities in the United Kingdom have approved a drug which aims to cure beta thalassaemia and sickle cell disease.

The drug 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.

Under normal circumstances, beta thalassaemia sufferers require blood transfusions every few weeks throughout the course of their lives.

Speaking following the country’s approval of the drug, the UK’s Medicines and Healthcare products Regulatory Agency’s interim executive director Julian Beach said “both sickle cell disease and beta thalassaemia are painful, lifelong conditions that in some cases can be fatal.”

“To date, a bone marrow transplant, which must come from a closely matched donor and carries a risk of rejection, has been the only permanent treatment option,” he added.

He also said that the drug has been “found to restore healthy haemoglobin production in the majority of transplants with sickle cell disease and transfusion-dependent beta thalassaemia, relieving the symptoms of disease” during trials.

The issue of the cost of such a drug could yet pose an issue however, with some predicting that even a one-off treatment using the drug may cost more than €1 million. To date, no price has been set.

However, experts believed that the pharmaceutical company involved in the drug’s development, 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.

Thalassaemia is a hereditary blood disorder caused when the body does not make enough of a protein called haemoglobin, which is an important part of red blood cells. Cyprus has one of the highest thalassaemia carrier rates in the world, believed to be around 15 per cent.

Given the high rate of carriers, it has been estimated that there are around 650 people suffering from thalassaemia in the Republic of Cyprus, with 53 people born with the disease between 2004 and 2019. It is also estimated that there are around 150 people suffering from thalassaemia in the north.

In addition, it has been estimated that one in 49 couples in Cyprus has a chance of having a child with thalassaemia.

The majority of thalassaemia patients in Cyprus are aged between 33 and 55.

The Cyprus Mail attempted to contact multiple former health ministers for comment.