🧬 New gene therapy cures 95 percent of children with "bubble boy" disease

• A single gene therapy using patients' own stem cells has cured 95 percent of treated children with a deadly immune disorder.
• The treatment uses the patient's own stem cells that are genetically modified to produce the missing enzyme.
• ADA-SCID is a hereditary disease that affects the immune system. A deficiency in the enzyme ADA leads to toxic metabolic byproducts accumulating in the body.

The disease previously killed children within two years

ADA-SCID is a hereditary disease that affects the immune system. A deficiency in the enzyme ADA leads to toxic metabolic byproducts accumulating in the body. White blood cells are most affected. The disease presents early in infants, usually with persistent infections. Left untreated, the disease is usually fatal during the child's first or second year of life.

Previously, two treatment options existed. Enzyme replacement therapy can alleviate acute symptoms and partially restore the immune system. But the treatment must continue for life and the immune system can counteract the effect. Bone marrow transplant with healthy stem cells from a donor can cure the disease. But the treatment carries serious risks and requires a well-matched donor.

How the gene therapy works

Between 2012 and 2019, 62 children with ADA-SCID were treated in the study. 33 children in the US and 29 in the United Kingdom participated. The children first received a mild dose of chemotherapy to make space in the bone marrow. Then they received a transplant of their own blood-forming stem cells. The cells had been genetically modified with a lentiviral vector to deliver a functional copy of the ADA gene. After treatment, the children's own cells could permanently produce the enzyme they were missing.

The study was conducted by researchers from UCLA, University College London and Great Ormond Street Hospital in London. Donald Kohn is the study's senior author. He is a pediatric bone marrow transplant physician and head of the Kohn Lab at UCLA.

Results show lasting effect

95 percent of the treated children have been cured long-term. Immune function persists over time. The safety profile continues to be good. The treatment requires no donor and is given only once.

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