Treated with a new molecular drug called talazoparib, designed to target these mutations, after 32 months from the end of the therapy she did not show clinical signs of disease
A little girl with High-risk metastatic neuroblastoma with Bard1 gene mutations treated with new drug molecular called talazoparib, designed to target these mutations, after 32 months from the end of the therapy did not present clinical signs of disease. “An encouraging and extraordinary result”, comments the researcher Mario Capasso, professor of medical genetics at the Federico II University of Naples and coordinator scientific at Ceinge in Naples, a research centre that has been working for years to study the genetic basis of the disease also through projects such as those supported by the Italian Foundation for the Fight against Neuroblastoma.
Commenting on the results of the study by St. Jude Children’s Hospital, in the United States, published in the scientific journal ‘The New England Journal of Medicine’, Capasso then specified: “The child showed a complete response to the therapy, with the total elimination of tumor cells from the bone marrow. Even more encouraging: the patient remained disease-free for 32 months after the end of treatment. Of course, it is important to monitor the evolution of her health status in the coming months. But 32 months disease-free is an extraordinary result for a patient resistant to standard therapies.
Typically, in fact, for this category of patients, life expectancy is only a few months”. Ceinge, with a specific working group, has also carried out new research. “One of the most significant results of the Naples team – he continues – was the discovery of mutations in a gene called Bard1. These variants, as demonstrated by the studies of our group, can alter the normal functioning of cells and are potential targets for new therapeutic treatments. From all this – continues Capasso – we understand how the funds allocated to genetic research can have a direct impact on clinical practice”. The study of mutations in genes to identify “targets” to hit for therapeutic purposes is part of the research areas supported by the Italian Foundation for the Fight against Neuroblastoma, the scientific branch of the Italian Association for the Fight against Neuroblastoma, a non-profit organization. “We will continue to support branches of investigation like this”, concludes Sara Costa, general secretary of the Italian Foundation for the Fight against Neuroblastoma and president of the Italian Association for the Fight against Neuroblastoma.
