A SPIRAL OF HOPE for children who have never seen the light. Condemned from birth to total darkness. They are the ones who come into the world like this, with dull eyes a due to a disease, Leber’s congenital amaurosis type 10. Rare but common. The dichotomy is only apparent: the first adjective refers to the genetic pathology, the second to the mutation, the acronym that represents the most frequent cause of blindness in early childhood.
Correct the defective DNA and go back to seeing
by Fabio Di Todaro
An invalidity that science has so far failed to counter, prevent or combat adequately. But it is a few days ago the announcement of a possible turning point thanks to an experimentation that, conducted in the Eye Clinic of the Vanvitelli University of Naples directed by Francesca Simonelli as part of the Illuminate studio, it would be able to restore sight to such a significant group of blind people who do not respond to any treatment. In this case not a surgical protocol but one gene therapy administered intravitreally which could lead to a real revolution in the field of treatment against amaurosis.
The drug in question, based on RNA, is called Sepofarsen and acts selectively by identifying and correcting a mutation within the CEP290 gene with consequent reactivation of the function performed by retinal cells. The first two patients undergoing clinical trials in Italy, currently in phase 3, the efficacy evaluation, are 18 years old. The study is conducted in a double-blind manner: one patient receives the drug, the other a placebo, but no one, not even the doctor, knows who it was administered to. Meanwhile, with the protocol in progress, the only novelty that leaks from the corridors of the Neapolitan eye clinic is the improvement of a patient: he begins to see and, of course, it is assumed that he is the one who has been inoculated with Sepofarsen in the vitreous body.
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Amaurosis is classified in the group of diseases of which the form that is identified as LCA10 is the most frequent and among the most serious. LCA10 is caused by mutations in the CEP290 gene, of which p.Cys998X in particular has the greatest prevalence. It is currently estimated that around 2,000 people in the Western world are affected by LCA10 associated with the p.Cys998X mutation, the one that leads to early vision loss causing blindness in most patients in the first years of life.
Sepofarsen is the result of the research of the Dutch laboratories ProQR Therapeutics, engaged in the development of RNA-based therapies for the treatment of serious rare genetic diseases, such as Leber’s congenital amaurosis, Usher syndrome and retinitis pigmentosa.
The scientist comments: “In a phase 1/2 clinical study, conducted previously, it was found that Sepofarsen (reimbursement approved by AIFA in January) is well tolerated, ensuring patient safety, and an improvement was also observed in most of the treated subjects. of vision. And it is on the basis of these encouraging results that we are participating in the larger Illuminate study for the definitive evaluation of the drug’s efficacy.
This is a phase 3, double-blind, randomized clinical trial that enrolled about 30 patients between the US and Europe with the involvement of 4 centers: the Netherlands, Germany, France and Italy. Candidates receive an administration with a scheme in succession: starting from time zero, then off with the second after three months and the third, finally, at distances of another six months. Subsequently, after a year, the protocol is repeated with similar methods for the treatment of the other eye.
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So far the experimentation has involved adults, but children aged three and over are already being recruited. “This time the scalpel was not used as in the previous experiment carried out on the two Apulian children suffering from hereditary retinal dystrophy linked to a mutation of the RPE65 gene – remembers Simonelli – In that case they underwent a surgery that involved the injection of the drug directly in the retina “. The final data on the outcome of the ongoing research arrive by May. Then, after the Vanvitelli of Naples, the Careggi Polyclinic of Florence and the Gemelli of Rome will leave.
“The Ophthalmology clinic of our University is an international excellence – the rector Gianfranco Nicoletti expresses himself – but above all it is now a point of reference for many patients who come here from all over Italy to rely on our scientists. Their studies are leading to a little big revolution in some genetic diseases “.
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