World Rare Disease Day: new EU networks for haematological diseases

28th February is World Rare Disease Day: in Europe less than one person every 2000 is affected, but collectively rare diseases constitute a major health problem, with 300 million people affected by a rare disease.

In the field of oncology, around 25% of people are diagnosed with a rare form of cancer. And this is even more so in haematology, where almost all forms of disease are considered rare.

‘Haematology represents a sphere of medicine where the interaction with rare diseases is particularly significant,’ explains Professor Matteo Della Porta    Head of Leukaemia and Myelodysplasias at IRCCS Humanitas Research Hospital, because in almost all cases we are confronted with a rare disease. Some of them are genetically determined, such as thalassemia and sickle-cell anaemia, others are mainly due to the ageing of stem cells in the bone marrow’. Of the latter, acute myeloid leukaemia is a prime example: there are about 3.000 new cases per year in Italy, with a very low incidence up to the age of 60 and an exponential increase with age.  ‘Acute myeloid leukaemia has become one of the paradigms of personalised medicine,’ the expert continues, ‘The specific study of the biological and molecular alterations of each patient allows us to identify the best possible treatment and thus the best strategy to extend the patient’s survival. The combination of a biological study of the patient with the development of new drugs is making a significant contribution to prolonging life expectancy and improving the quality of life.

Therapeutic innovation

The range of haematological diseases is quite broad and affects also children: in the field of oncology, although rare, acute lymphoblastic leukaemia is the most frequent tumour in paediatric age. It is a very serious form, but today it is treatable thanks to research.

‘Acute lymphoblastic leukaemia today represents one of the greatest successes of therapeutic innovation,’ Della Porta clarifies, ‘which is essentially based on the introduction of personalised medicine as well as new and more advanced therapeutic options such as cellular therapies and CAR-T. These use T lymphocytes extracted from a patient’s blood sample, which are genetically modified in the laboratory and then re-infused to activate the immune system’s response against the disease. – And,’ he continues, ‘latest generation monoclonal antibodies are available to eliminate cancer cells. These and CAR-Ts represent a real possibility both for the disease to be eradicated and for patients to return to a normal, good quality of life’. The current approved indications however only allow to use the CAR-Ts therapy for young people, as it may cause severe toxicity in patients.

The European network of haematology centres

Prospects for the future are very encouraging. Indeed, the European Union has implemented strategies and activities to ensure that haematologists and their patients diagnosed with a rare haematological disease are treated homogeneously in all countries. “It is fundamental that people affected by a rare disease have access to diagnosis, therapies and information in every centre across Europe and that they can be treated in the same way – explains Prof. Della Porta – and this is why the European Commission has created the EuroBloodNET network, which is the European reference network for rare haematological diseases, whose clinical research activities are coordinated by Humanitas. This is a great step forward because it allows to connect and exchange experiences and knowledge between different centres, including those who deal with very few patients and would otherwise not have access to the latest expertise’.

Rare diseases and research

It is important to invest in research into rare diseases because they represent a very advanced area for innovation and diagnostics to potentially treat other diseases as well.  ‘Many treatments that today we use for non-rare diseases,’ explains Prof. Della Porta, ‘for example, the monoclonal antibody technology used to treat Covid-19 infection was developed many years ago for the treatment of a haematological disease. Another example in immunotherapy is stem cell transplantation, which was developed for the treatment of acute myeloid leukaemia’.

Doctor-patient, a strategic partnership

An important innovation that began in the EU in connection with rare diseases was the establishment of a strategic alliance with patients and their associations in order to better understand and address their specific needs and put the patient’s point of view at the centre of the treatment plan. “Today, patients must be present at all decision-making forums on rare diseases besides doctors and institutional and decision-making bodies. And – continues Professor Della Porta – In all therapeutic interventions from the clinical trials onwards, there must be tools to include the patient’s point of view on the treatment, expectations and quality of life. This has helped clinicians a lot in aligning the doctor’s expectations with those of the patient’.

The future

Humanitas is also the scientific coordinator of GenoMed4All, a major project funded with more than €10 million by the EU and involving more than 20 European institutions. The aim of the project is to connect the clinical and genomic data available in Europe on rare haematological diseases and use new technologies (Artificial Intelligence) to define new treatment opportunities for patients. The ambitious goal is to find a treatment for every rare disease.