ITALY – Stem Cells. New Method to Combat Immunodeficiencies in Children at San Raffaele in Milan

(Stem Cells News image)

Maria Grazia Roncarolo

Maria Grazia Roncarolo

It was stunning to see them closed inside of those plastic bubbles, kept far from all external contact because their immune system does not react against any foreign antigens. Today scientists can say that ADA-SCID (adenosine deaminase deficiency), a serious combined immunodeficiency caused due to a lack of the adenosine deaminase enzyme, has been definitively defeated by gene therapy developed at San Raffaele of Milan.

The final study, which combined the conclusions of clinical studies, which began in 2000 on strategic therapies developed by the HSR-TIGET (San Raffaele Telethon Institute for Gene Therapy) group, led by Maria Grazia Roncarolo and Alessandro Aiuti, and was published in the New England Journal of Medicine.

Over 8 years have passed since Salsabil, the first Palestinian child with ADA-SCID was treated and cured. Today, it can be announced with complete confidence that the treatment is efficient and safe after many years: 9 children living in isolation from the rest of the world due to their disease, have now grown, go to school, live a normal life, and can finally say that they are cured.

The most recent is Abdul Rahim, ethnically Pakistani, born at the end of 2006 in Qatar. His parents had already lost three children to ADA-SCID. His condition was diagnosed immediately and his parents and the doctors contacted HSR-TIGET and immediately started paperwork to get him an Italian visa.

At only three months old, Abdul underwent gene therapy. Doctors removed stem cells from his bone marrow and in the laboratory inserted two healthy ADA genes into his cells, using a retroviral vector to transport the new genes into his chromosomes.
After re-infusing the manipulated stem cells, they were returned to the boy’s bone marrow and started to produce blood cells containing the normal ADA enzyme. Abdul’s family returned to Qatar in July 2008 and will return to Italy in the summer of 2009. Just over a year has passed and he is still well, and his immune system is starting to function normally.

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