Rare diseases: beta-thalassemia, drug controls anemia in 77% patients

In Italy it is estimated that there are about 2 thousand patients affected by non-transfusion-dependent beta-thalassemia, characterized by congenital anemia that does not require regular and continuous blood transfusions. However, the disease can cause serious complications, such as an increase in the size of the spleen, osteoporosis, pulmonary hypertension, cardiac hypertrophy and above all, in the case of surgical removal of the spleen, an increased risk of thrombosis. While there were no therapies to control anemia so far, “for the first time a new molecule, luspatercept, has been shown to be effective in substantially increasing the hemoglobin value in over 77% of patients. And in more than half of the cases a very high increase was achieved “. The data emerge from the international phase 2 Beyond study, presented at the European Hematology Association (Eha) Congress and analyzed in depth during a virtual press conference promoted by Celgene, Bristol Myers Squibb (Bms) group. “The scientific value of the study is such”, reads a note, that the trial was “included in the Presidential Symposium and selected among the best 6 abstracts of the congress. 145 patients were involved and Italy played a role of foreground in research “, with 5 centers involved. “Beta-thalassemia is a hereditary congenital disease, caused by a defect in the production of hemoglobin, the protein responsible for transporting oxygen throughout the body – explains Gian Luca Forni, president of Site (Italian society of thalassemia and hemoglobinopathies), director Hematology Center Microcythemia and Congenital Anemias Galliera hospitals in Genoa, and co-author of Beyond – The disease affects about 7 thousand people in Italy, 2 thousand “of whom” have the intermediate form, that is, non-transfusion-dependent. the expert – 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 average at intervals of 2-3 weeks “.” The organism of patients with beta-thalassemia does not transfusion-dependent is subjected to constant wear and tear and is comparable to a car engine that fails to run at full capacity – is the metaphor used by Forni – Que In fact, these patients have 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. Additionally, occasional transfusions may be needed to manage acute events that cause a sudden decrease in hemoglobin. Hence the need to identify therapeutic options for this population, today without effective weapons “.” Luspatercept – underlines the president Site – reduces ineffective erythropoiesis, allowing the production of mature red blood cells and improving the control of anemia. It is the first and only approved erythroid maturation agent in Europe. In the Beyond study, it showed an increase in hemoglobin values ​​equal to or greater than 1 g / dL in 77.7% of patients. A very important result, because it translates into an improvement in peripheral oxygenation, making it possible to improve the performance of daily physical and mental activities. Not only that: in 52.1% of patients treated with luspatercept the increase was greater, i.e. greater than 1.5 g / dL. In addition, 89.6% of patients remained transfusion-free throughout the study period, compared with 67% with placebo. These advantages are reflected in an improvement in the quality of life, as evidenced in the questionnaires filled in by patients “.” People with non-transfusion-dependent beta-thalassemia – continues Forni – must undergo constant checks to identify all complications early. including iron overload which, even in the absence of a regular transfusion regimen, can accumulate pathologically due to increased intestinal absorption. 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, even these patients, like transfusion-dependent ones, must take an iron chelation therapy in some periods. Luspatercept, which effectively controls anemia, also makes it possible to reduce iron intake by preserving organs and limiting possible complications also linked to the side effects of iron chelating drugs “.

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