Rare diseases, to Pietro Merli prize for research on stem cell transplant rejection

Identify new markers in the blood to investigate the rejection mechanism of hematopoietic stem cell transplantation, thus accelerating the timing of diagnosis and optimizing the treatment of primary haemophagocytic lymphohistiocytosis (p-Hlh): a rare disease of the immune system that affects about 10 in Italy children every year, usually in the first 2 years of life, and which in the absence of treatment leads to death within a few weeks of onset. This is the goal of the research project by Pietro Merli, from the Department of Oncohematology, Cell Therapy, Gene Therapies and Hemopoietic Transplantation of the Irccs pediatric hospital Bambino Gesù in Rome, which was awarded the ‘Research beyond Hlh 2021’ award. , promoted by Aile Onlus (Italian Association of Hemophagocytic Lymphohistiocytosis) and by Sobi Italia, a biopharmaceutical company engaged in rare diseases, for the promotion and support of innovative scientific research in the treatment of Hlh. The winning project was announced at the European Hematology Congress – Eha2021 and will benefit from a two-year funding of 45 thousand euros. The timely transplantation of hematopoietic stem cells is crucial in the treatment of p-Hlh, because it allows to replace the defective immune system with a healthy one, thus bringing the 5-year survival of the young patients to 66%. However, haemophagocytic lymphohistiocytosis is characterized by an increased risk of rejection with an incidence of 13%, according to a recent study by the Italian Association of Pediatric Hematology and Oncology. “It is essential to investigate the different mechanisms that can contribute to the rejection of hematopoietic stem cell transplantation – explains Merli – because to date, unlike solid organ transplantation, there are no effective therapies to treat incipient rejection and primary haemophagocytic lymphohistiocytosis has an increased risk of rejection. Thus, this research project aims to exploit the most advanced technologies to characterize the profile of new markers in biological fluids, for example in the blood: the goal is to develop new diagnostic strategies, in order to anticipate the diagnosis , which unfortunately today is often late and arrives when the rejection has already been completed, which is therapeutic “. “It is necessary – Ugo Ricciardi, president of Aile Onlus, and Sergio Lai, general manager of Sobi Italia, declare in a joint note – to network and collaborate to support the most innovative scientific research against a rare disease such as Hlh, which unleashes a storm cytokine in the immune system of young patients, but which metaphorically involves the whole family in a long process of hospitalization and treatment leading to hematopoietic stem cell transplantation. We therefore hope that the winning project will shed light on the mechanisms that can lead to the rejection of transplant and that can help improve the diagnosis and treatment of this disease that affects one child out of 50 thousand new borns and which, if not treated promptly, can be fatal in a very short time “.