(Adnkronos) - “In questa nuova fase della malattia dopo l’avvento di nuovi medicinali vediamo dei bambini e dei ragazzi che crescono in maniera diversa, vediamo dei quadri clinici nuovi, ma restano dei punti che possono essere migliorati – lo dichiara Eugenio Mercuri, direttore dell’Unità operativa di Neuropsichiatria infantile del Policlinico Agostino Gemelli – Università Cattolica del Sacro Cuore di Roma –. La terapia genica che fino a questo momento era disponibile solo per bambini di età e peso estremamente piccoli ora è in sperimentazione la somministrazione per via intratecale, direttamente nel midollo, che permetterebbe di dare dosi più piccole rispetto la via endovenosa. In Italia abbiamo istituito il registro Ismac, riuscendo a raccogliere dati per capire cosa è successo dal 2016 quando è stato disponibile il primo farmaco, ad oggi sappiamo che la sopravvivenza è superiore al 90% oltre due anni”.
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00:00The field of spinal muscular atrophy remains a very exciting field, and a few years ago we had the joy of seeing three approved therapies that have literally revolutionized the progression of the disease, our way of seeing the disease, but this was perhaps only the beginning of a new phase, because in this new phase we see children, boys who grow up in a different way,
00:30we also see the emergence of some phenotypes, some clinical pictures that we did not see before, and despite there being so much joy in seeing this better progression of the disease, there are still points that can be potentially improved.
00:47At the moment there are new therapeutic attempts, that is, attempts to side with the existing drugs of the new drugs or to modify the modalities of supply of the existing drugs.
01:00In the second case, the gene therapy, which at this time was only available for children of relatively young age and weight, is in a phase of experimentation to see the possibility of being able to adopt the same therapy but supplying it for entratical purposes,
01:22that is, directly in the kidney, this would allow to give smaller doses compared to the very large doses that should be given for a very large child or for an adult where endovenous supply would be made.
01:35In addition to this innovation, which we hope will complete the path of the clinical trial, there are also other possibilities, such as having the entratical supply of the first approved drug, Nusinersen, with higher doses or even those with devices that would make it easier to access the entratical pathway.
02:01These are all in the process of experimentation.
02:04In addition to these new ways of supplying, which would expand what we already have, the therapies that we already have available, there are also other drugs under experimentation at the moment, which are different drugs.
02:19In this case, we are talking about combining therapies, that is, side by side with the existing therapies that have proven their success, new drugs with different mechanisms.
02:30The most obvious example is that of myostatin inhibitors, that is, drugs that, if supplied, would favor muscle growth, whereas the mechanism of the pathology is to make the muscle a little smaller, atrophic enough, as in the name of the disease.
02:47So, these new drugs, some have completed clinical trials, others are still in the experimental phase, the results are very promising, so we expect that in the coming years the scenario will change further with these new developments.
03:02In Italy, for several years now, we have set up a registry called ISMAR, part of an international registry, which was then expanded in Italy to cover the entire Italian network of all the centers that are recognized by the region as prescription centers for spinal muscular atrophy.
03:21As part of this collection, we have already been able to obtain very important results. First of all, we were able to have a number of people affected by spinal muscular atrophy in Italy, thus being able to outline the representation in the different regions for different types of spinal muscular atrophy.
03:45It was very nice to see that as the registry progressed, the number of children with type 1, the most serious form, increased. In the past, despite this being the most frequent form, these children were not numerically many because their survival was limited to two years.
04:02Just recently, this large registry has allowed us to go and see what has happened in Italy since 2016, that is, since the year when the first drug was available for these children. And it's great to see that while in the past, before the arrival of drugs, we had that only 8% of children survived more than two years, now we have a percentage of children treated that is higher than 90%, not only two years, but some of these children are already 7-8 years old.
04:32It's great to see how these registries also give us an idea of how the disease is changing, even numerically. This is very important, also when we deal with new families who find themselves with a diagnosis of disease, to be able to anticipate long-term results that until now were clearly not available.