(ANSA) – ROME, 06 SEPTEMBER – Developing a neonatal drug therapy and a fetal gene therapy in utero for Leigh syndrome, a mitochondrial disease (mitochondria are the cell’s power plants) that affects 1 in 36 thousand newborns. This is the project coordinated by Dario Brunetti of the University of Milan and Principal Investigator at the Carlo Besta Neurological Institute, winner of the Multi-round call promoted by the Telethon Foundation that selected 22 research projects throughout Italy dedicated to rare genetic diseases. The project received funding of 240 thousand euros and will last two years.
Leigh syndrome (LS) is a neurometabolic disease that affects the central nervous system. Affected children present a progressive delay in psychomotor development and neuromuscular disabilities, which lead to the death of the patient in the first three years of life. One of the main causes of this disease is the mutation of the SURF1 gene, involved in the correct functioning of mitochondria. Brunetti and Alessandro Prigione’s group at the University of Dusseldorf have understood that SURF1 mutations cause a metabolic block of the cell that hinders the correct development of neurons. Thanks to the project funded by Telethon, two therapeutic approaches will therefore be studied. An attempt will be made to test a class of phosphodiesterase 5 inhibitor drugs (PDE5I), which have given positive responses in a European preclinical trial, to act during postnatal neurological development.
The fetal gene therapy to be administered in utero, developed by Brunetti together with Nicola Persico, fetal surgeon and professor at the University of Milan, aims to solve the genetic problem by reinserting the correct version of SURF1 into the fetus via ultrasound-guided injection in utero. This makes it possible to correct the genetic defect before irreversible pathological processes set in, taking advantage of a moment in which it is easier to convey the therapeutic gene into the central nervous system. “The preclinical development of a new therapeutic strategy for a rare disease represents an important step towards the translation of the future therapy to patients. Winning a Telethon tender is always a great emotion given the extremely high level of competition. It is a victory that I share with all the colleagues involved in this multidisciplinary study” – Brunetti underlines. (ANSA).
2024-09-07 09:11:31