They grow up, have acquired new motor skills and the first 8 children are doing well who received the new gene therapy for a rare severe metabolic disorder, called Hurler’s syndrome. The results of the treatment capable of engineering and correcting stem cells, succeeding in wiping out toxic substances from the organs of patients who are affected by them, has been developed at the San Raffaele-Telethon Institute for Gene Therapy in Milan and the results have just been published in the New England Journal of Medicine (NEJM).
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The Hurler’s syndrome, also called mucopolysaccharidosis type 1H, is a genetic disease caused by the lack of an enzyme that degrades particular sugars. The latter, accumulating, can damage the cells of different organs and compromise the growth and cognitive development, leading to death as early as adolescence. With an incidence of one case in 100,000 new borns, it currently affects about 400 people worldwide, 26 in Italy. Strengthened by the long experience on other genetic diseases, the SR-Tiget researchers managed to correct the genetic defect responsible for the syndrome, so much so that, two years after the treatment, all the children involved in the study are well and have reached milestones. important for their development.
“The positive effects of the therapy were seen soon – explains Maria Ester Bernardo, head of the San Raffaele pediatric bone marrow transplantation unit – Their cells quickly began to produce large quantities of the enzyme, which cleaned up organs and tissues from accumulated toxic metabolites. We observed the progressive acquisition of new motor and cognitive skills typical of their age, as well as an excellent growth in height and a reduction of other symptoms typical of the syndrome such as joint stiffness and corneal opacity ». But “we will have to continue to observe these children to verify that the effects continue over time.”
The new therapy provides a corrected version of the genetic information needed to produce the missing enzyme. First, the hematopoietic stem cells are taken from the patient himself, which give rise to red and white blood cells or platelets. The patients’ cells are then put in contact with a viral vector, a modified HIV virus so that they are no longer able to replicate, but only to enter the cells and carry the desired genetic information. Once corrected, the stem cells are reinfused to patients, generating cells that can reach the various organs, where they release the functioning enzyme capable of degrading otherwise toxic substances. The path, underlines Alessandro Aiuti, deputy director of SR-Tiget and full professor of Pediatrics at the Vita-Salute San Raffaele University, who coordinated the study, “is still long, a multicentre study will start next year. But it is encouraging that the development times of these therapies are shortening thanks to the experience accumulated over the years ».
Last updated: Thursday 18 November 2021, 09:27
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