It was a rare condition without therapy . But today the neuronal ceriodolipofuscinosis type 2 (CLN2) – neurodegenerative disease similar to that which has affected the baby Alfie Evans , belonging to the same family – which leads to the destruction of the central nervous system of children, can be blocked by a new drug that replaces the enzyme that patients are lacking. Experimentation is conducted on 23 children in 4 international centers, including the Infant Jesus. The results are published in the New England Journal of Medicine.
The 3-year study involved 23 children of various nationalities with CLN2 in the initial-intermediate stage in phase 1 (the first administration of a drug in humans). The international experimentation was conducted, in parallel, in 4 different Centers: the Bambino Gesù Pediatric Hospital in Rome; the Hamburg-Eppendorf University Medical Center in Hamburg; the Great Hormond Street Hospital in London and the Nationwide Children’s Hospital of Ohio State University in Columbus (USA).
All the children in the study were infused directly in the brain, the drug containing an active ingredient called cerliponase alfa, which replaces the enzyme deficient in people affected by CLN2. The effect of the therapy was considered clinically significant: 87% of the children who completed the trial did not, in fact, undergo the motor decline and the expected language in the natural evolution of the disease.
It has been shown that this drug can stop the progression of the disease, but does not restore the original neurological conditions of the child – emphasizes Nicola Specchio, responsible for rare and complex Epilepsies of the Infant Jesus – to ensure patients an optimal quality of life therefore the early diagnosis is fundamental “. The therapy has already obtained the approval of the US government agency that deals with the regulation of food and pharmaceutical products (FDA) and the European Medicines Agency (EMA).
Therefore also other children in the world are benefiting from its documented efficacy. In addition to the children included in the trial, 12 other patients with CLN2 are currently being monitored at the Bambino Gesù. These include a 2-year-old who has not yet developed the symptoms of the disease. Doctors are monitoring the effects of the therapy in the hope that the symptoms do not show up at all in the course of growth.