Lafora’s disease, a rare genetic pathology, doesn’t leave much time. It doesn’t put itself on stand by, it continues its course regardless of papers, graphs, practices. “And so Andrea gets worse. The last few days have been a nightmare: 11 epileptic seizures in 12 hours. As parents we are worried, to the limit of endurance. We ask for an answer as soon as possible, that the Lombardy Region tell us if it is possible to access that attempted therapy that seems to give results in other patients”. Stefano and Daniela, parents of Andrea, 20 years old, renew their request for help.
To try to slow down the hands of the Lafora, which crisis after crisis increasingly ‘turns off’ the body and brain of the affected boys, they hope to be able to try the route of a drug, Myozyme*, enzyme replacement therapy already in use for another pathology, Pompe disease. It is a possibility that is being explored in some regions of Italy (Lazio, Campania, Umbria), and to which the relatives of Andrea, resident in Lombardy, are also asking to access. The boy has, so far, been denied.
After the appeal launched in recent days, the Welfare department and general management, as explained by the Region, had taken charge of the matter and were evaluating the clinical possibilities. “They have to make a decision,” Andrea’s father, Stefano Mariani, repeats to Adnkronos Salute. “Our son is one of the few patients who reached 20 years of age in a condition that still allows him to walk and talk, but he no longer does some of the things he used to do. The crises have increased, and we fear the passing of time. The situation seems to be worsening. This is why we are asking for a timely response.”
NEW SCIENTIFIC DATA COMING SOON – In the meantime, scientists are working on collecting scientific evidence. “We have put together data” on the hope of a therapy for patients with Lafora disease that involves the use of the drug Myozyme*, Federico Vigevano, director of the Department of Developmental Age Pathologies and Neurorehabilitation at the IRCCS San Raffaele in Rome, stated in recent days. Soon, he announced, “we will present them at the European Congress on Epilepsy” Eec Congress of which Vigevano is honorary president, “which will open in Rome on September 7. We managed to get the abstract accepted at the last minute and we demonstrate that the drug passes the blood-brain barrier. The work is progressing and we are preparing a paper to publish the data in a scientific journal as well”.
Sharing data with the scientific community and publishing it is an important step, the expert explained, “to ensure that other Regions”, in the presence of patients who need it, “agree to take charge of the treatment, because the problem is that, to do so, these latter would like to have something published”. The cost of the treatment, he says, “is around 400 thousand euros per year. A high figure, but not exceptional considering that there are very few children with Lafora disease”.
“And the impression is that we can slow down the evolution of the disease” with this strategy. Vigevano followed the case of Carola, a girl from Fiumicino for whom the Lazio Region has unlocked the path to Myozyme. Carola is undergoing treatment at the Bambino Gesù hospital in Rome. Vigevano, although now at San Raffaele, continues to follow her path. The patient “continues to undergo treatment, she has had an improvement on the motor and cognitive levels, not on the epileptic seizures level. The data we have obtained demonstrate at least that with this therapy the disease has not progressed. And in such a severe pathology that is already a result”, he says.
After Lazio and Umbria, “only Campania, in addition, has agreed to take on these expenses for patients. There are already two girls in this last region who are undergoing therapy, and probably soon there will be a third. In total, to date” in Italy “we have 4 in therapy and one on the ‘waiting list'”. How is the data collection going in the meantime? “There was an important problem that we faced, and that is whether or not this drug could pass the blood-brain barrier. That is, does it reach the brain or not?”, analyzes Vigevano. It was one of the doubts expressed by some metabolists. “In collaboration with Giancarlo Parenti”, professor at the Federico II University of Naples, “we did studies on Carola’s and another patient’s liquor, and now we are about to do the third, demonstrating that the drug actually passes the barrier”. Since “traces of it were found in the liquor, it cannot therefore be said that it does not pass”, the specialist points out.
Myozime had been given “while waiting for a drug aimed at” the disease to be tested. The most concrete hope was Val-1221. All this while Ionis Pharmaceuticals, another company that had taken an interest in Lafora, “was carrying out studies on the natural history of the disease. This company also collected data from patients who are being followed in Bologna and other centers in Europe, as well as in America. And it would have been important for them to publish them,” Vigevano reasons. “It would have been useful because we too could have used them to show precisely whether patients who are taking Myozime are doing better than those who are not, according to what should be the natural evolution of the disease.” As for the experimental drug, “in the end some patients were even able to take Val-1221, receiving it in a path – on paper – of compassionate care. Others were instead introduced into a trial. But this company was no longer able to give the drug and even those patients who had done it in a compassionate way are in crisis.”
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