The European Commission has greenlighted the use of Casgevy gene-therapy to treat beta thalassemia and sickle cell disease, in a move heralded as a “milestone” for the fight against human genetic diseases.

Cyprus is one region of the world where thalassemia is particularly prevalent, and the Cyprus-based International Federation of Thalassemia (IFT) heralded the development, saying it paves the way for more than 8,000 patients to receive the treatment.

Casgevy (exagamglogene autotemcel) is based on Crispr gene-editing technology and is the first gene therapy approved in Europe for sickle cell disease and transfusion-dependent beta-thalassemia (TDT).

The commission granted conditional marketing authorisation to Vertex Pharmaceuticals and CRISPR Therapeutics’ gene therapy for use in transfusion-dependent beta thalassaemia and severe sickle cell disease patients aged 12 years and over.

The decision follows the positive opinion adopted by the European Medicine Agency in December 2023. A condition marketing authorisation is valid for one year and can get renewed annually as more clinical data gets reported.

Executive director at IFT Dr Androulla Eleftheriou stressed national strategies should be prepared so as to ensure the technological and scientific progress made in gene therapy can be taken advantage of.

“Cyprus and Greece must not be left behind to the developments concerning these unique therapeutic products. They can contribute to the cure of several rare diseases and catalytically improve the quality of life of many sufferers,” she said.

Vertex Pharmaceuticals will work with hospitals experienced in stem cell transplantation to establish a network of independent authorised treatment centres to administer the treatment. There are currently three activated such centres in the EU, while it plans to activate a total of around 25 throughout the European territory, IFT said.

Beta-thalassemia and sickle cell disease are chronic genetic diseases caused by abnormalities in the gene that makes hemoglobin, which red blood cells use to carry essential oxygen around the body.

The treatment’s approval, IFT said, came after years of clinical trials that showed Casgevy restored healthy hemoglobin production in the majority of participants, freeing beta-thalassemia patients from the regular, lifelong blood transfusions they need to survive, and patients with sickle cell disease from debilitating pain.

However, the inclusion and availability of the treatment in the various European member states has been met with challenges, mainly due to its high cost and the need to find appropriate ways of covering and reimbursing it by the national health systems or private insurance bodies.