Free from transfusions thanks to gene therapy and with a significantly improved quality of life .
Approximately 89% of 63 beta thalassemia patients in the sample , who depended on regular blood transfusions for survival, were found without blood transfusions for three years after receiving a single infusion of their own stem cells. blood-forming cells that had been altered to correct the genetic mutation that had caused the disease.
The new data was presented at the congress of the American Society of Hematology (ASH) by Franco Locatelli , director of the Department of Onco-Hematology and Cell and Gene Therapy at the Bambino Gesù hospital in Rome.
All the patients considered had a severe form of beta thalassemia , an inherited disease in which the body produces very little hemoglobin and caused by a wide range of mutations in the beta-globin gene.
THE STUDY - Patients in the study received their own hematopoietic stem cells that had first been harvested and genetically modified by adding one or more healthy copies of the beta-globin gene. Before the reinfusion of the cells, the same patients were treated with chemotherapy.
After completing two years of follow-up, patients could enroll in a long-term study to continue follow-up for up to 15 years. The current study reports results for patients who were followed up for up to seven years (median of 3.5 years). In total, 49 patients achieved transfusion independence and all remained transfusion independent at the three-year follow-up. Another separate study assessing quality of life also showed marked improvements in the ability to work, attend school and be physically active after gene therapy.
"The main message coming from our results is that gene therapy , which adds healthy genes to stem cells, is a viable, safe and potentially curative treatment option for many patients with beta thalassemia ," Locatelli said. In fact, gene therapy has led 90% of patients in phase 3 to independence from transfusions and the results are stable over time".
THERAPY AND COSTS - It should also be stressed, Locatelli notes, that if beta thalassemia "can be treated with a transplant of healthy stem cells from a compatible donor, this option is not available for the 75% of patients who do not have a donor ». This therapy (betibeglogene autotemcel) was approved by the US FDA in August as the first gene therapy for beta-thalassemia for adults and children. However, the problem of costs remains: the gene therapy manufacturer, explains Locatelli, "has obtained a refund of 2.8 million dollars for the treatment in the USA, but production in the EU has been suspended despite the approval of the European Medicines Agency for a failure to cover the company's costs with respect to the reimbursements of EU government agencies. In fact, in Italy alone there would be at least 1,000 eligible patients, for a cost of 3 billion euros».
IN ITALY – In our country there is actually a valid alternative: «In June we have already presented the data of another study on the reactivation of fetal hemoglobin through the Crispr technique which acts on the DNA sequence concerned, and it has been seen that 42 of the 44 thalassemia patients treated, 95% achieved independence from transfusions, and now the pediatric trial is starting». At the moment "patients have an alternative by entering these clinical trials but within a year there should be the green light from the authorities and commercial availability also for this therapy, the costs of which - concludes Locatelli - are not yet known".
(Unioneonline/vl)