NewsHealthRare diseases, therapy found for Carola

Rare diseases, therapy found for Carola


A first, small light of hope lights up for Carola, the 17-year-old from Fiumicino who lives with the very rare Lafora disease, a genetic alteration that causes sugars to accumulate especially in the brain, in the absence of the proteins that should synthesize them. involved in glycogen metabolism. From crisis to crisis, his life as an enthusiastic and passionate teenager had slowly faded away. For this reason her parents, Simona and Lorenzo, fought with all their strength to offer her at least one attempt at a cure, even pushing together with the other few patients, to carry out a drug promise that uses an RNA platform, and that a ‘American company had begun to experiment, the project ended at the time in limbo. To unlock another way for her was the intervention of the Lazio Region. And today Carola’s hope is called ‘Myozyme *’: it is an enzyme replacement therapy already in use for another pathology, Pompe’s disease. On Friday the girl was able to receive the first administration at the Bambino Gesù pediatric hospital in Rome. “This experiment is the first in the world – Simona Fochetti, Carola’s mother tells Adnkronos Salute – We don’t know if it will work but for the first time someone has moved to try to find immediate solutions”. Solutions for a girl who has no time to waste in long waits. For these patients, the life expectancy is a few years, on average 5-10 from the onset of tangible disorders. “We had an angel, the head of the Pharmaceuticals area of ​​the Lazio Region, who understood the situation – retraces Simona – Today the Region is buying this drug, which is administered to Carola intravenously with the same dosages and modalities that are used for the other disease. And there is a lot of anticipation. For our part, of course, that we dream of a sign of improvement in our daughter, but also of the rest of the world that is interested in this pathology and needs to have scientific evidence that demonstrates whether the drug is able to overcome the blood brain barrier as hypothesized “. Roberto Michelucci, director of the Neurology Operational Unit of the Bellaria hospital – Irccs Institute of Neurological Sciences of Bologna, explained the unknowns well. “Pompe disease is a disease of the muscles and the heart, the Lafora of the brain. And this drug is not designed to pass the barrier between the blood and the brain. We – the expert said – we hope, however, that You pass it partly, because in these people with epilepsy this barrier could be altered. And the drug administered to the brain in the animal seems to work. ” These are the premises. Carola will need to have infusions every 15 days. “We expect to start seeing if she responds to the therapy from the fourth infusion onwards – says the mother – so we will have to wait a couple of months. Meanwhile, the first administration did not give any side effects and this is important”. Simona knows that she has a teenager in front of her, who has been living away from school and her friends for months. “Carola is serene and she hopes too. I see her impatience in her eyes. She dreams of feeling herself again”, she is the girl her peers have known and appreciated. She “she is in a hurry to improve just to be able to go back to see her friends”. This is why, explains Carola’s mother, “I cannot remain idle. On the one hand, I am serene, because we are doing something. But I am continuing to work so that we can do even more. I would like to have as much certainty as possible that the drug crosses the blood brain barrier. And we would have them if we were to use a device that works with ultrasound and would facilitate this passage and the arrival of the drug to the target. I will continue to write emails and solicit answers from everyone, every day. I hope we can take one small step after another “. And if there was hope overseas, that is, if the experimentation for the drug ‘designed’ specifically for Lafora were to be unlocked, “I would do everything so that even Italian patients can take it”. Simona’s thoughts also go to the other children affected by the disease. “We have been lucky enough to find an interlocutor in the Lazio Region who has grasped precisely our need, the urgency to do something. And he made therapy for Carola possible – he concludes – But other Italian children affected by the disease still haven’t. And we are really trying to find a uniform path for everyone. The hope is that all the institutions, the Italian Medicines Agency Aifa, will move in this direction, that the mechanism will be unlocked. That they too can remain tied to this thread of hope “.


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