29 February: Rare Disease Day

Rare Disease Day is the most important date for all people diagnosed with a rare disease, as well as for their families, healthcare professionals, research communities and institutions. It was first established in 2008 and the chosen date is the rarest day on the calendar, 29 February, just like this year, otherwise 28 February. In recent years, the Rare Disease Day has become increasingly important, also thanks to positive research results, and we now refer to the month of rare diseases.

The definition of a rare disease is based on prevalence, i.e. how many people within a population have that disease. For rare diseases this means less than 5 cases per 10,000 people. For rare cancers, on the other hand, the criterion is based on the incidence, i.e. the number of new cases in a given period. In Europe, the threshold is 6 cases per 100,000 people per year.

Numbers in Italy

Rare cancers in Italy affect around 900,000 people and account for 24% of all new cases of cancer. The fact that a tumour is rare does not mean that it is not curable or that there is less chance of treating or controlling it. Some cancers, particularly in haematology, have achieved significant recovery and control rates over the years.

Haematology

Haematology is an important research laboratory as all haematological cancers are classified as rare.

Haematological diseases encompass a rather broad spectrum and affect children. An example is acute lymphoblastic leukaemia, which is the most frequent tumour in children. This is a very severe form but is now fortunately treatable.

Many therapies studied today have become the ‘standard of care’ and have made it possible to achieve results that seemed unattainable. This is true, for example, for certain leukaemias that have achieved a survival rate of over 90%. These successes are the result of advanced therapies and treatment tools, including bone marrow transplantation, immunotherapy and cell therapy (Car-T).

We have made great steps ahead with regard to lymphomas,’ explains prof. Carmelo Carlo-Stella Director of the School of Specialisation in Haematology at Humanitas University and Head of the Lymphoma and Experimental Therapies Section of the Department of Oncology and Haematology of the IRCCS Istituto Clinico Humanitas – today there are several therapies available, such as immunotherapy, monoclonal antibodies that interact with antigens located on the surface of lymphoma cells; new so-called ‘biological’ drugs that selectively, though not exclusively, target lymphoma cells by targeting precise mechanisms of cell replication; radiotherapy, bone marrow transplantation and Car-Ts“.

Research at Humanitas University and in Italy

Humanitas University is one of the Italian centres of excellence for research in haematology. “There are currently 35 clinical trials involving patients with various diseases such as leukaemias, myelodysplasias, lymphomas, multiple myeloma and pathologies associated with allogeneic stem cell transplantation. In addition, various CAR-T cell therapy studies are active’.

In Italy, there are several researched and studies within oncology and rare cancers, traditionally financed by Foundations such as the Associazione italiana per la Ricerca sul Cancro (AIRC), the Associazione Italiana contro le leucemie-linfomi e mieloma (AIL), the  Fondazione Veronesi, and recently with PNRR funds. ‘A recurring problem,’ explains the expert, ‘is that once a possible effective molecule has been identified, there are often considerable difficulties in making it available because the number of patients is small, which is an obstacle to conducting clinical trials with an appropriate number of patients. – He continues: ‘Scientific societies, such as the Società Italiana di Ematologia (SIE), are actively working on various fronts such as the ministerial, institutional and corporate one, to ensure that these drugs are made available, and a major push is also coming from patient associations’.

Doctor-patient alliance

A breakthrough initiative has been launched in Europe in the field of rare diseases, establishing a virtuous alliance between doctors, patients and their associations in order to better understand the needs and put the person at the center of the treatment pathway. “Today, at all decision-making tables concerning rare diseases, patients must be present together with doctors and institutional bodies. – And Prof. Carlo-Stella concludes – starting with clinical trials, tools must be available to understand the patient’s point of view on therapies, quality of life and expectations”.