Gene therapy cures 10 patients with rare immune disease: study


Friday, 23 December, 2022

Gene therapy cures 10 patients with rare immune disease: study

Ten infants have been cured of a rare genetic disease called Artemis-deficient severe combined immunodeficiency (ART-SCID), according to research by scientists in the US and Canada.

The study was published by M.J. Cowan et al. in The New England Journal of Medicine.

ART-SCID affects approximately one in 65,000 newborns and causes life-threatening problems with the immune system. It’s caused by faulty copies of a gene that codes for a DNA repair enzyme called Artemis, which is required for the production of functioning immune cells.

The infants were conditioned with an intravenous low-dose of the cancer drug Busulfan before the team injected them with gene-corrected cells. These were obtained through bone marrow harvest and transduced with a lentiviral vector.

No unexpected adverse events were reported in safety assessments up to 42 days after transfusion.

Busulfan toxicity manifested as transient cytopenias: Anemia, Thrombocytopenia and Neutropenia. Four patients developed Autoimmune Hemolytic Anemia between 4 and 11 months after the transfusion, but this was resolved with reconstitution of T-cell immunity.

On follow-up, all the infants had genetically corrected and functional immune cells.

Image credit: iStock.com/Shutter2U

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