BOLOGNA - A seven-month-old Ukrainian baby, suffering from a serious rare hereditary mitochondrial disease with a very limited life expectancy, has arrived from Lviv to Bologna to be treated with an experimental therapy. His mother is with him in Italy, but his father remained at the war front.
The young patient was welcomed a week ago at the IRCCS Policlinico Sant'Orsola, and is being treated by the professionals of the Pediatric Neuropsychiatry of the Institute of Neurological Sciences of Bologna, thanks to the intermediation and support of the Mitocon-Insieme association for the study and treatment of mitochondrial diseases, a reference organization for people affected by these diseases and their families.
The baby was born with a severe form of thymidine kinase 2 (TK2) deficiency, which causes progressive muscle weakness, with a high probability of dying from respiratory failure within a year of onset. Hope is placed in an innovative therapy by Professor Caterina Garone, a pediatric neuropsychiatrist at the Institute of Neurological Sciences.
A therapy that has already been shown to produce positive effects on survival and biochemical and genetic defects in patients.
After the patent, it was used in a clinical trial and "to date a few dozen people have been treated. All of them survived - explains a joint note from the polyclinic and the Bologna Ausl - and had a recovery of motor and breathing skills, with much better results when the therapy is administered early".
For the Ukrainian child, the only way forward is the administration of the drug in "compassionate use": the practice in which experimental drugs are used on patients outside of clinical trials, after authorization from the pharmaceutical company and approval by the ethics committee, which met urgently. The Ukrainian child's disease "mainly affects the muscles and in his specific case in a very severe form with a life expectancy of one year - explains Professor Caterina Garone - he breathes with a ventilator, is fed with an ostomy, does not move any part of the body. He can only open his wonderful eyes."
It would have been impossible to treat him in Lviv: "The war would have made it complex," says the neuropsychiatrist, "and moreover, Ukraine is not a European Union country, so it was not possible to ship the experimental drug. But we didn't give up: for this child it represents the only hope and it cannot be wasted." The child will remain hospitalized for about a month, then he will remain in Bologna for a further three months to continue the therapy. The Mitocon association played a key role in the economic commitment and management of the emergency situation: "The child arrived in Italy from Lviv because here for the first time, for a specific mutation, for a mitochondrial child, there is a therapeutic opportunity - underlines the president Marco Marmotta - If the experimental protocol works, he could have a better quality of life. That's what we want for all of our patients and our children."
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