4-Year-Old Girl Affected by Rare Cystic Fibrosis: Tailor-Made Treatment Arrives from Tigem in Pozzuoli

A customized therapy began in early December that will allow Camilla, a 4-year-old girl with a very rare form of cystic fibrosis, to have a cure tailored to her genetic profile. What led to the identification of the drug that is allowing the treatment of the little patient is a success of personalized medicine entirely Made in Italy, the result of Telethon research and the synergy between different centers. Born in Florence in 2015, Camilla was diagnosed, thanks to neonatal screening, with cystic fibrosis, a serious genetic disease that affects the cells of the respiratory and digestive systems. However, his genetic profile was new and required specific treatment. It was thanks to the Telethon TV Marathon that Camilla's parents heard about Luis Galietta, a researcher at the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli, who has been studying cystic fibrosis for over twenty years. They then decided to contact him and this was the first step towards creating a real multidisciplinary task force that also involved the Advanced Biotechnology Research Center (Ceinge) in Naples and the Gaslini Institute in Genoa. “Together,” explains Galietta, “we demonstrated that one of Camilla’s two mutations, the rarer one, had very different effects from the one that in other patients had been found to be insensitive to drugs. Fortunately, we discovered that, unlike another similar one, it responded to a treatment already approved for the most common genetic alteration in cystic fibrosis." To be sure that what was observed in the laboratory was predictive, adds Galietta, “we tested the therapy on some cells taken from the nasal epithelium of the child, verifying that they responded correctly. This gives us hope for the best, but only clinical tests will demonstrate the real benefit." The results of the study were published in the journal Human Mutation and allowed Meyer Hospital, where Camilla is being treated, to request authorization to administer the drug off-label, that is, with an indication other than the one for which it was authorized. “The administration – explains Galietta – began on December 5th and will last 6 months. In a few days there will be the first check-up, to understand how the little girl is responding." “This is the first case of personalized therapy for cystic fibrosis in which we went directly from evaluating the efficacy of the drug tested in vitro on the cells of the patient's nose to giving it directly to the patient,” observes Vito Terlizzi, director of pediatric medicine at the Regional Center for Cystic Fibrosis at Meyer. This innovative study method, “represents the only way to access new drugs for which the number of people interested is so small that clinical trials are not possible”. This example of personalized medicine has a similar precedent, the drug 'tailor-made' for the unique genetic defect of Mila, a girl with Batten syndrome, in the United States.