Gene therapy on 'bubble' children, i.e. those affected by the rare ADA-SCID immunodeficiency which forces them to live in sterile and isolated environments, also works in the long term, with a favorable relationship between risks and benefits.
This is what emerges from a study published in Nature Medicine by the San Raffaele-Telethon Institute in Milan.
The research involved 43 patients treated since 2000, 19 of which after the therapy was registered in the European Union in 2016. It is one of the most "long-lived" advanced therapies, among the first in the world to be approved as a drug for all the effects.
Since 2023, the Telethon Foundation has become responsible for production and distribution, thus avoiding its withdrawal from the market given the production costs.
Ada-Scid is a very rare genetic disease: in the European Union it is estimated that between 6 and 11 children are born with this pathology every year.
It is due to the defect in the adenosine deaminase gene, an enzyme essential for the production and maturation of lymphocytes, a particular type of white blood cell.
Without this protein, the immune system does not develop properly and is unable to fight the most common infections, which can even be fatal.
These children are therefore forced to live in a sterile and isolated environment, so much so that the expression "bubble children" has been coined for them.
Currently the first choice therapy is the transplant of hematopoietic stem cells from a compatible family donor, which can cure the disease but is available in less than 20% of cases.
When this is not feasible, gene therapy represents a valid therapeutic option: it is administered only once in a lifetime and consists of a vector of viral origin containing a corrected version of the defective gene in patients.
"The patients treated - underlines Maddalena Migliavacca, pediatric immunologist and researcher in the Pediatric Immunohematology Operational Unit of the IRCCS San Raffaele Hospital - are all alive and in most cases they did not need further curative therapies after gene therapy" .
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