The β-Thalassemia (or beta-thalassemia) genetic disease of the blood classified as rare, but very widespread in the Mediterranean area and in particular in Italy, where it is estimated that there are almost 7 thousand people who suffer from it and about 3 million healthy carriers. In recent years, new treatments have been developed for patients with a severe form, forced for life to repeated blood transfusions at intervals of two or three weeks In recent days, during the annual congress of the European Hematology Association (Eha) , have emerged for novelty also for patients with non-transfusion dependent beta-thalassemia who, although they do not have to undergo regular and continuous sessions, still have congenital anemia which creates various complications for them.
The study and the leading role of Italy
It is estimated that about 2,000 Italians are affected by this less severe form of beta-thalassemia which can lead to serious complications, such as enlargement of the spleen, osteoporosis, pulmonary hypertension, cardiac hypertrophy and (especially in the case of surgical removal of the spleen) an increased risk of thrombosis. If up to now there were no therapies capable of controlling anemia, the phase two BEYOND study, presented in the presidential session of the European conference Eha (the main one, reserved for the most important innovations) has shown that a new molecule, luspatercept, in almost 8 out of 10 patients it can be effective in substantially increasing the number of red blood cells that, in the sick, not enough to carry enough oxygen to satisfy the needs of the different tissues and organs of the body. Specifically, the drug increases the hemoglobin value (by at least 1 g / dL) in 77% of the participants in the trial, which involved 145 people and in which Italy played a leading role with the involvement of five different centers. Furthermore, in more than half of the cases, a very high increase (greater than 1.5 g / dL) was achieved. In addition, 89.6% of patients remained transfusion-free throughout the study period compared with 67% with placebo. Luspatercept reduces ineffective erythropoiesis, allowing the production of mature red blood cells and improving the control of anemia.
It improves the quality of life of the sick
Beta-thalassemia is a congenital, hereditary disease caused by a defect in the production of hemoglobin, the protein responsible for transporting oxygen throughout the body – explains Gian Luca Forni, President Site (Italian Society of Thalassemia and Hemoglobinopathies) and Director of Hematology – Center for microcythemia and congenital anemia at the Galliera Hospital in Genoa -. The intermediate form, ie non-transfusion dependent, is underestimated compared to thalassemia major, which is easily diagnosed and therefore censable because it requires transfusion therapy to be carried out in the hospital on a regular basis. The organism of patients with non-transfusion-dependent beta-thalassemia subjected to constant wear and tear and comparable to the engine of a car that fails to run at full capacity. These patients – continues Forni, who co-authored the BEYOND study – present in fact low hemoglobin levels (8-10 g / dL), but not such as to involve regular transfusions. A condition that has a negative impact on the quality of life, because every action, such as walking, running, climbing stairs requires considerable effort. Furthermore, Occasional transfusions may be needed to manage acute events causing a sudden decrease in hemoglobin. Hence the need to identify therapeutic options for this population, today without effective weapons. Luspatercept is the first and only erythroid maturation agent approved in Europe – explains the expert – and the result achieved is very important because it translates into an improvement in peripheral oxygenation, also allowing to improve the performance of daily physical and mental activities. And that means having a superior quality of life, as evidenced by the questionnaires completed by patients
The many benefits of the new cure
From the mid-eighties, with the spread of prenatal diagnosis (which allows parents who want a child to understand if both are healthy carriers of the genetic mutation that causes the disease and therefore to know if the unborn child will be thalassemic), cases of beta-thalassemia in Italy are decreasing, but thanks to the arrival of more and more effective treatments, many couples decide to still have a child, aware of the fact that they can still have a good quality of life. People with non-transfusion-dependent beta-thalassemia should be monitored constantly to identify all complications early, including iron overload, which, even in the absence of a regular transfusion regimen, can accumulate in a pathological way due to increased absorption from the intestine – explains the expert -. Excess iron risks causing damage to organs such as the heart, liver and pancreas, leading in the long run, for example, to heart failure, fibrosis, liver cirrhosis and diabetes. To counteract it, these patients, like transfusion-dependent ones, also have to take in certain periods a ferrochelante therapy. Luspatercept, which effectively controls anemia, also allows you to reduce iron intake by preserving organs and limiting possible complications also linked to the side effects of iron chelating drugs.
Gene Therapy Confirmations for Major Patients
Data from the long-term follow-up study (LTF-303) with autotemcel (beti-cel) gene therapy in patients with transfusion-dependent β-thalassemia. With 51 patients enrolled, the trial results show that all beti-cel-treated participants who achieve transfusion independence remain transfusion-free, with the longest observation period reaching seven years. In all phase three studies with beti-cel, 89% of evaluable patients of all ages and genotypes achieved transfusion independence and no longer has to undergo transfusions. Furthermore, the absence of drug-associated adverse events beyond 2 years after infusion confirms a favorable long-term safety profile. Iron levels have approached normal and markers of hemolysis have normalized, indicating a production of healthy red blood cells in the absence of transfusions.
June 25, 2021 (change June 25, 2021 | 19:29)
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