(Adnkronos) - “Stiamo attraversando un periodo molto favorevole, in quanto oggi esiste anche per una malattia grave come la sclerosi laterale amiotrofica (Sla) la possibilità di un accesso anticipato ad un farmaco da febbraio 2024: il tofersen, un oligonucleotide antisenso, che può rallentare la progressione della patologia per le persone che hanno la mutazione Sod1, circa 2% della popolazione con Sla”. Lo dichiara Valeria Sansone, professore ordinario università di Milano, Centro Clinico NeMO Milano, in occasione del 54° Congresso Sin - Società italiana di neurologia, in svolgimento a Roma fino al 12 novembre.
Category
🗞
NewsTranscript
00:00We are going through a very favourable period because even for a serious disease such as
00:08myotrophic lateral sclerosis, there is today the possibility of early access to a drug
00:14from February 24, which is called Toferse, which is an antisense oligonucleotide that
00:19can slow down the progression of the pathology, which is still aproniosympathetic and inesorable,
00:26for people who have the SOD1 mutation, so it is the 2% of the population with a
00:32hereditary form, not for all people, today there are 6,000 people in Italy with SLA,
00:39so only 2% with the SOD1 mutation, but it represents, as I think, a beginning of a
00:47therapeutic possibility, however, having overcome some technical and technological barriers
00:52for certain genetic forms and then perhaps also for sporadic acquired forms.
00:59We also have news in the field of children with neuromuscular diseases, because in the
01:05most frequent form of muscular dystrophy of children, that is, the Duchenne muscular dystrophy,
01:10which is linked to a recessive form on the X chromosome because the dystrophin is missing,
01:16which is a disease that holds the muscle tissue, today there is the possibility, with a
01:21drug called Givinostat, to propose to children from 6 years old onwards, a therapy that can
01:28reduce the degeneration of the muscle fiber acting on the inflammatory part, on the
01:34repair mechanisms of the DNA at the muscular level, so once again, positive prospects,
01:39part of this therapeutic wave that neuromuscular diseases are going through and that, as we
01:44talk about brain health and One Health, I would like to emphasize that also for rare diseases,
01:49muscle health is important and must be seen as an investment in these people to give them
01:53quality of life and meaning as a person to the entire community.