An important turning point for these blood cancers and for Beta thalassemia: due to severe anemia, the life of patients conditioned by long hours in hospital, but the new drug reduces the need for transfusion
They are little known but on the rise and will grow even more in the next few years, also because they mainly affect the elderly and in Italy the general aging of the population is a known fact. Myelodysplastic syndromes (or myelodysplasias) are a heterogeneous group of rare blood diseases that until a few years ago were considered incurable, while today they can begin to benefit from increasingly effective therapies and which significantly improve the lives of patients. In this sense, the approval by the Italian Medicines Agency (Aifa) of a new medicine that reduces the blood transfusions needed by many patients goes in this sense. The drug, luspatercept, was presented in December 2018 among the main innovations at the American Society of Hematology conference and has now obtained reimbursement, also in our country, in adult patients suffering from anemia dependent on blood transfusions, due to myelodysplastic syndromes or beta-thalassemia.
An underlying defect that causes severe anemia
The new diagnoses of myelodiplasias every year in Italy are about 3 thousand, above all of interest people over 70 years old and still too many patients do not receive a correct and timely diagnostic classification which is very important in order to set the best therapy, prolong the survival of the sick and improve their quality of life. Underlying these blood cancers is a bone marrow stem cell defect which prevents the production of an adequate amount of white blood cells, red blood cells and platelets – he explains Matteo Della Porta, director of the Leukemia and Myelodysplasia Unit at the Humanitas Institute in Milan -. This causes extremely different pathologies: some patients have the same life expectancy as the average population, others instead undergo a rapid evolution in acute myeloid leukemia. They are still little known, but the scientific advances in recent years have made it possible to understand the molecular mechanisms that cause them and this, in addition to improving our diagnostic skills, has made it possible to more accurately define the prognostic-evolutionary picture of the different types of pathology, as well as developing specific treatments. As a result of the production defects underlying the disease, blood values are lowered (especially those of red blood cells) causing anemia, present in almost all patients. Luspatercept can substantially reduce the transfusion requirement because it counteracts the lack or insufficient production of mature red blood cells both in patients with myelodysplasia and in those with Beta-thalassemia.
Various parameters to be measured in order to choose the treatments
Different treatments are available for myelodysplasias: the drugs to be administered are different and are prescribed based on certain criteria that take into account the subtype of syndrome the person suffers from, how it evolves, the reactions and the patient’s quality of life. Anemia responsible for many symptoms, including pale skin and mucous membranes, tiredness, breathlessness and a rapid heartbeat – continues Della porta -. The insufficiency of red blood cells, in almost all patients, becomes severe over time and needs support with regular blood transfusions, which can also become very frequent. Treating severe transfusion-dependent anemia effectively is the key to improving quality and life expectancy. Luspatercept has been shown in clinical studies to substantially reduce the need for transfusion in patients with a particular subtype of myelodysplastic syndrome: a truly decisive step forward in therapy. The approval of Aifa concerns people with myelodysplastic syndromes (at very low, low and intermediate risk) who have ring sideroblasts with unsatisfactory response or unsuitable for erythropoietin-based therapy. According to the results of the MEDALIST study on 153 patients with myelodysplastic syndromes, with the use of the new drug 47% of patients free from transfusions for about two months (8 weeks).
The needs of the sick
Patients with myelodysplastic syndromes have very specific clinical and care needs, therefore they must be treated in specialized centers. The life of the sick conditioned by frequent visits to specialized centers for blood transfusions – he says Paolo Pasini, president of the Italian Association of patients with myelodysplastic syndrome Onlus -. They are incapacitating pathologies that force one to often go to hospital and the life of the sick and family members, in fact, revolves around the specialist center. For this necessary distribute skills throughout the territory and serves, by the health system, the activation of services continuous assistance. The need for a well-coordinated network of hospitals spread across all Regions is also shared by thalassemia patients: Reducing the need for blood and making people more free from transfusions is an important achievement, but it is essential not to stop in front of the bureaucratic difficulties linked to the approval processes at the regional level, which create strong territorial discrepancies – he adds Raffaele Vindigni, president of United Onlus (National Federation of thalassemia, sickle cell disease and rare anemia associations) -. Furthermore, the still open question of the network of centers: in 2017, the Italian network of thalassemia and hemoglobinopathies was established through a specific law. This, however, has not yet followed implementing decree to secure the network and thus allow us to continue the work of diagnosis and treatment carried out in recent years.
The benefits for thalassemia patients
The β-Thalassemia (or beta-thalassemia) genetic disease of the blood classified as rare, but particularly widespread in the Mediterranean area and in particular in Italy, where it is estimated that there are almost 7 thousand people suffering from it and about 3 million healthy carriers. hereditary, caused by a defect in hemoglobin production, the protein responsible for transporting oxygen throughout the body: If both genes of the beta chains that make up hemoglobin are mutated, you have beta-thalassemia major, which presents a severe clinical picture, with severe anemia – he explains Gianluca Forni, director of Hematology, Center for microcythemia and congenital anemia at the Galliera Hospital in Genoa -. The symptoms of this form of the disease appear already in the first months of life and, if adequate therapies are not taken, the consequences can be severe anemia, bone deformities, enlarged spleen and liver, growth problems, hepatic, endocrine and cardiovascular complications. Until the 1960s, patients with beta-thalassemia major did not survive beyond 10-15 years, but today thanks to combination of transfusion and iron chelation therapy, their life expectancy greatly improved, despite being forced to undergo blood transfusions every 2-3 weeks for life and to take iron chelation therapy every day, to avoid the damage caused by the accumulation of iron to vital organs such as the heart, liver and pancreas. The reimbursement of an innovative therapy like luspatercept can really change their life because it allows to decrease the transfusion requirement, reduce the accumulation of iron and the consequent comorbidities, with a hope of improvement on survival – concludes the expert -. The data deriving from ongoing trials may provide further evidence in this perspective, but the BELIEVE international study, published on New England Journal of Medicine
and which involved 336 patients with transfusion-dependent thalassemia, has already shown that 70% of patients treated with luspatercept reduce their transfusion requirements by 33%.
December 8, 2021 (change December 8, 2021 | 17:46)
© REPRODUCTION RESERVED
#Myelodysplasias #drug #improves #lives #patients #arrives