Huntington's signs in the first months of life described in a recent study
Thanks to the children met in the context of the 'Space Huntington' project, it was possible to grasp and describe the signs of HD much earlier than we have seen so far.
'Spazio Huntington, A Place for Children' is the name of a unique initiative, aimed specifically at families with minors at risk, which the LIRH Foundation promoted two years ago in collaboration with CSS-Mendel, the Roman branch of the Casa Sollievo della Sofferenza Research Hospital and with the Department of Neurology of the Pediatric Research Hospital Bambino Gesù. This initiative made it possible that a multidisciplinary clinical team could observe HD-at risk children without subjecting them to the stress that inevitably accompanies the ' classic '' medical examination in a hospital or outpatient setting.
Thanks to "Spazio Huntington", for the first time, signs of Huntington Disease has come to light already in the first months of life. This initiative has favored the approach of families with children at risk to the world of research, thus allowing the identification in children with Huntington's of alterations never described before.
Huntington's disease is a rare, neurodegenerative, inherited disease caused by a known genetic mutation that can be recognized with a DNA test, even before it is clinically visible, which usually happens in adulthood. However, Huntington can also affect very young people, although more rarely and, even more rarely, children.
In these cases, the disease is more aggressive.
In two years, and despite the pandemic, 25 children and adolescents have been met. This made it possible to acquire, analyze and share with the scientific community very important data describing the very rare condition that characterizes some of them: in fact, in 4 children, a particularly toxic mutation caused difficulties in moving the first steps, in articulating the word, in understanding (cognitive alterations), as well as brain alterations: everything was evident already in the first years of life.
Engaging parents of Huntington's at-risk children in clinical and scientific settings has always been extremely difficult, due to their understandable fear of discovering a terrible truth. Now, however, by the mandatory recommendation of the European regulatory authority (EMA), children will also be able to access the therapeutic trials available for adults, thus opening up a new scenario in the world of research and hope for Huntington families. The LIRH-CSS-Bambino Gesù collaboration aims to help these families.
“I will never forget that mom who, many years ago, when I diagnosed her little boy with Huntington's disease, told me that she never wanted to see me again. I hope that our efforts and our studies can eliminate forever the desperation of that mother and the sense of helplessness of that doctor. ” comments Ferdinando Squitieri, LIRH Foundation Scientific Officer, responsible for this research.
The article was published in the Journal of Personalized Medicine (JPM), in the Special Issue 'The Many Faces of Huntington Disease' edited by Ferdinando Squitieri.