Naples, scientific research saves the life of a little girl in the States and opens up the possibility of a cure for neuroblastomas

NAPOLI – This is a story that begins far away, in 2003 to be precise. And like many stories of resistance it begins with pain. That of Anna Maria Alfani and a group of parents who lost their children to cancer, one of the worst: neuroblastoma.

An invisible opponent. A silent and implacable enemy that represents approximately 10% of all tumors recorded from birth to 14 years of age and is the most frequent among all in neonatal age (Source AIRTUM). In Italy, approximately 140 new cases occur every year with an almost identical incidence between males and females. The average age at diagnosis is approximately 18 months. Added to this is the impossibility of defining useful strategies for prevention since to date the risk factors have not yet been identified with certainty.

Open: twenty years of battles at the service of children. But Anna Maria is not a woman who gives up. Despite everything, she herself defines herself as a dreamer, an optimist but above all terribly determined to help those children who have yet to come into the world. And he does so by founding Open, an association that does not bear his daughter’s name due to a specific choice “Because I didn’t want it to be an association in memory of my pain, but an association of hope open to all”, Open precisely. However, the association’s battles are not conventional ones, instead of weapons there are gala evenings, events, dinners and conferences all aimed at raising funds to support research. A research that today shows the importance of investing more and more in experimentation, in a multidisciplinary way and with increasingly interconnected teams on an international scale.

Bard-1, when research and associations come together. Today the battle is certainly not over, but a blow has been scored and it is an important blow to give hope that this pathology will be defeated in the future: “Our Association is proud to support the advanced research of Professor Mario Capasso’s group and by Professor Achille Iolascon (editor’s note: professors of Medical Genetics at the University of Naples Federico II and Principal Investigators at CEINGE, a genetic research center for rare diseases). For years, the Naples team has been dedicated to studying the genetic basis of neuroblastoma, with the aim of understanding the mechanisms underlying the disease and developing new therapies that can offer hope to young patients. – explains Anna Maria, with a voice that conveys the emotion of the case – One of the most significant results of their work was the discovery of genetic mutations in a gene called BARD1. These variants, as demonstrated by the group’s studies, can alter the functioning of cells, transforming them into potential targets for new therapeutic treatments. And thanks to funding from our Association, Professor Capasso’s group was able to delve deeper into these discoveries and contribute significantly to a phase of extraordinary progress in the treatment of neuroblastoma.”

The New England publication of medicine. In fact, just a few days ago, the news of an important confirmation in the progress of the fight against neuroblastoma was published in the New England Journal of Medicine, one of the most prestigious scientific medical journals in the world. The text, published by researchers at the St. Jude Children’s Research Hospital in the United States, describes the case of a little girl suffering from neuroblastoma, however resistant to conventional treatments, and carrier of mutations in the BARD1 gene.

The risks of neuroblastoma. Neuroblastoma is a tumor that originates from neuroblasts, cells present in the nervous system that control some involuntary functions of our body. Neuroblasts are immature or developing cells found in the nerves and are widespread throughout the body which, if subjected to mutation, therefore allow the pathology to arise in different locations.

The little girl’s complete response. “By testing a therapy with a new molecular drug aimed at targeting these mutations – explains Professor Capasso – the little girl showed a complete response with the total elimination of tumor cells from the bone marrow. The little girl remained free for 32 months after the end of therapy. Now the monitoring phase will be important, but at the moment it is an unprecedented success in a case like this where life expectancy is a few months. Meanwhile, a clinical study has already been started in the United States to test the effectiveness of the drug in a larger population of children with recurrent solid tumors. “

The march towards the right treatment. An extraordinary success that would not have been possible without the support of Open “The funding provided to support the research group’s research has translated into a practical and tangible result. – concludes Anna Maria Alfani – We will continue to support scientific research with determination, because each discovery brings us closer and closer to a definitive cure thanks to the tireless work of researchers and allows us to look with confidence to a future where this disease will only belong to the past .”