Myelofibrosis is a rare chronic disease of the bone marrow. About 700 people in our country are diagnosed each year. It causes fever, profound tiredness and weakness, night sweats, itching, bone aches and weight loss. It is difficult to diagnose, and there have been no real therapeutic advances in over a decade. Now, however, patients have a new treatment option: a new targeted therapy, fedratinib, of which Aifa has just approved reimbursement in newly diagnosed patients and in those already treated with standard therapy, when this is no longer able to manage. the illness.
From marrow to spleen
“Myelofibrosis belongs to the group of chronic myeloproliferative diseases, which also include polycythemia vera and essential thrombocythemia”, explains Alessandro Maria Vannucchi, Professor of Hematology at the University of Florence: “In most cases it affects people between 60 and 70 years old. The term ‘myeloproliferative’ indicates that it is an alteration in some stem cells present in the bone marrow, which leads to an excessive proliferation of other blood cells. The gradual appearance of fibrous tissue is noted, which permanently changes the structure of the bone marrow, no longer allowing it to function properly, i.e. the normal production of blood cells. The latter moves from the bone marrow to the spleen, causing this organ to enlarge ”.
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This enlargement of the spleen, termed splenomegaly, occurs in almost all patients and is responsible for a number of disorders, mainly gastrointestinal. The enlarged spleen compresses nearby organs, in particular the stomach and intestines, and the patient experiences difficulty in digestion, feelings of heaviness in the stomach, discomfort in the abdomen and satiety even after eating little, abdominal pain and irregular bowel functions, with episodes of diarrhea and constipation. In some cases – underlines Vannucchi – the spleen can compress the lungs, causing dry cough and pain in the left shoulder, and the kidneys, with difficulty in urinating.
For 90% of patients, transplantation is not an option
“Stem cell transplantation represents the only curative approach to date, characterized however by important limitations: first of all it is usually carried out to people under the age of 70, moreover, a compatible donor is needed, preferably chosen in the family environment because it has similar characteristics to the recipient, ”he explained Francesco Passamonti, Professor of Hematology at the University of Insubria in Varese. “Patients who can be referred for transplantation must not have serious comorbidities and only 5-10% are candidates for this demanding procedure, characterized by a 5-year mortality of between 10 and 60%”. The most recent development in myelofibrosis therapy is targeted therapies that target proteins from the JAK2 family, a protein involved in the hematopoietic process whose production is impaired in more than half of patients. The standard therapy in this case is ruxolitib, a drug that begins to lose effectiveness after a period of 3-5 years in almost half of the patients.
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“Hence the importance of AIFA’s approval of the reimbursement of fedratinib, which allows to respond to unmet clinical needs, for patients who urgently need new therapies”, added Vannucchi: “For the first time in almost a decade without progress, a new molecule enters the therapeutic armamentarium: a selective kinase inhibitor JAK 2, an oral targeted therapy that has shown clinically significant reductions in spleen volume and symptoms, in patients whose disease has progressed during treatment with ruxolitinib or not previously treated with JAK inhibitors “.
Who is the new drug for
There are two forms of myelofibrosis: primary, i.e. not due to other pre-existing haematological diseases, and secondary, which constitutes the evolution of another chronic myeloproliferative disease, such as polycythemia vera or essential thrombocythemia. AIFA has approved the reimbursement of fedratinib for the treatment of disease-related splenomegaly or symptoms in all cases: in adult patients with primary myelofibrosis, post-polycythemia vera myelofibrosis or post-essential thrombocythemia myelofibrosis.
In clinical trials, the new drug has been shown to significantly reduce spleen volume in 47% of patients (not previously treated with standard therapy) at the end of the sixth course of treatment. And to concretely improve symptoms in 40% of patients. In people already treated with ruxolitinib, spleen size decreased in 30% of patients, and symptom reduction was achieved in 27%.
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An alliance between industry, institutions, hematology and patients
“Myelofibrosis is a chronic disease which, in its full-blown stages, gradually worsens over the years, progressively compromising the general health conditions”, he recalled Antonella Barone, President of AIPAMM – Odv (Italian Association of Patients with Myeloproliferative Diseases). “Today we have more hope thanks to the availability of a new therapeutic option in myelofibrosis, proof that research is progressing, even in rare diseases. This is why it is essential to build bridges to foster collaboration between industry, institutions, haematologists and patients “.
“Science has always been the cornerstone of our strategy,” he explains Cosimo PagaExecutive Country Medical Director, Bristol Myers Squibb: “With Celgene, for over 25 years, we have been focused on haematological diseases. These advances have significantly improved patient survival and quality of life. We are proud to have made available, in addition to fedratinib in myelofibrosis, new therapeutic options in beta-thalassemia and myelodysplastic syndromes and our commitment is currently focused on acute myeloid leukemia, multiple myeloma and large B cell lymphoma ”.