Two important trials concern people with beta thalassemia and sickle cell anemia. The studies, in which the Bambino Gesù Children's Hospital in Rome played a leading role, have shown that a single treatment based on stem cells modified with genomic editing techniques frees for a long period of time from the need for transfusions and - in the case of anemia - from the most feared complications, such as vaso-occlusive crises.
The studies were published in the New England Journal of Medicine and confirm "the definitive curative potential" of this therapeutic strategy, said Franco Locatelli, head of the clinical and research area of Oncohematology of Bambino Gesù in Rome, who coordinated one of the two studies and is the second signature of the other. Thalassemia and sickle cell anemia are the two most frequent hereditary blood diseases in the world. Both pathologies are caused by mutations in the genes involved in the synthesis of hemoglobin, the protein in red blood cells that transports oxygen in the body. The two trials, promoted by the pharmaceutical companies Vertex Pharmaceuticals and Crispr Therapeutics, verified the therapeutic efficacy of an approach that involves the modification of hematopoietic stem cells through the CRISPR-Cas9 'molecular scissors' system. The modification serves to make the blood cells produce fetal hemoglobin instead of what is physiologically produced after birth.
The first of the trials involved 52 patients between 18 and 35 years old with beta thalassemia, of which 14 enrolled at Bambino Gesù and showed that 91% achieved independence from the transfusion, finding on average hemoglobin values higher than those observed in parents, who are healthy carriers of the pathology. The high hemoglobin values and the presence of modified cells, in some of them, have persisted for over 4 years.
The second study instead confirmed, in 44 patients with sickle cell anemia (7 of whom were treated at Bambini Gesù), that the therapy is able to free them from vaso-occlusive crises for at least 12 months. Also in this case the hemoglobin levels are good and the benefit is sustained over time. The genome editing therapy, whose name is Exagamglogene Autotemcel, was approved a few months ago by the European Medicines Agency (EMA) for patients over the age of 12. Trials are underway on younger children.
(Unioneonline)
