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 have been no therapies to control anemia so far, “for the first time a new molecule, luspatercept, has been shown to be effective in substantially increasing hemoglobin values 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 explored 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 leading role. first floor 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 non-transfusion-dependent beta-thalassemia 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 – These patients in fact have levels of low hemoglobin (8-10 g / dL), but not such as to involve regular transfusions. A condition that has a negative impact on quality of life because every action, such as walking, running, climbing stairs, requires considerable effort. In addition, they can occasional transfusions may be necessary 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 erythroid maturing agent approved in Europe. In the Beyond study it showed an increase of 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, allowing to improve the performance of daily physical and mental activities. : 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 to to 67% with placebo. These advantages are reflected in an improvement in the quality of life, as evidenced in the questionnaires completed by the patients “.
“People with non-transfusion-dependent beta-thalassemia – continues Forni – must be subjected to constant checks to identify all complications early, including iron overload which, even in the absence of a regular transfusion regimen, can accumulate in a pathological due to increased absorption from the intestine. 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. patients, such as transfusion-dependent patients, must take iron chelating therapy in some periods. Luspatercept, which effectively controls anemia, also allows to reduce iron intake by preserving organs and limiting possible complications also related to side effects of iron chelating drugs “.