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.
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