No more ‘death sentence’: 100% survival rate achieved in gene therapy trial
Published in Immunology.
A gene therapy offered new hope for children suffering from a rare and potentially fatal immune disorder, according to a recent study published in the New England Journal of Medicine. The study evaluated the outcomes after two years of treatment in nine patients aged between 5 months and 9 years, all of whom survived to the two-year follow-up mark and are living with no disease symptoms, indicating a “sustained clinical benefit in all patients.”
Leukocyte Adhesion Deficiency Type I (LAD-I) is an extremely rare genetic disease, occurring in one case per million, caused by a mutation in the gene ITGB2. This mutation leads to the production of a defective protein called CD18, preventing leukocytes from traveling to infection sites and effectively fighting infections. Without treatment, survival beyond childhood is rare for individuals with severe LAD-I, and the most severe cases are often fatal before the age of two.
The only available treatment for patients with severe LAD-I was a bone marrow transplant from a compatible stem cell donor. However, finding a suitable donor is challenging, and transplants carry risks, including potentially deadly side effects such as graft-versus-host disease.