Gene therapy works for a rare severe metabolic disorder called Hurler’s syndrome. The first 8 children who received the innovative treatment developed at the San Raffaele Telethon Institute for Gene Therapy in Milan are growing up, have regained motor skills and are doing well and whose results have just been published in the New England Journal of Medicine (Nejm).
Hurler’s syndrome impairs growth and cognitive development and can lead to death as early as adolescence from cardiovascular and respiratory complications.
Strengthened by the long experience on other genetic diseases, the SR-Tiget researchers were able to effectively 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 fine and they have reached important milestones in their development.
“The positive effects of the therapy were seen soon – he explains Maria Ester Bernardo, head of the San Raffaele Pediatric Bone Marrow Transplant Functional Unit – Their cells rapidly started producing large quantities of the enzyme, which cleared organs and tissues of 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 positive effects continue over time”.
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 but it is encouraging that the development times of these therapies are shortening thanks to the experience accumulated over the years “.