Incredible! Gene therapy cures 10 patients with rare autoimmune disease

Scientists are always working and studying ways to cure diseases. A recent clinical study brought very encouraging results for patients with Severe Combined Immunodeficiency with Artemis Deficiency. According to the article, 10 newborns were cured of the disease. The research was done by scientists in the US and Canada, and published in The New England Journal of Medicine. Learn more throughout the article.

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How did scientists find a cure for a rare disease?

Severe Combined Immunodeficiency with Artemis Deficiency is caused by defective copies of a gene. This is responsible for encoding a DNA repair enzyme called Artemis. Hence the name of the disease.

This enzyme is essential for the production of functional immune cells. Thus, carriers of the disease have their immune system extremely impaired and are more susceptible to viruses and bacteria harmful to the body.

In this study, scientists conditioned babies to a low dose of Busulfan, a drug used to treat some types of cancer. Then they injected cells with the corrected genes, harvested from bone marrow and translucent with a lentiviral vector.

Side effects

Infants with Severe Combined Immunodeficiency with Artemis Deficiency were closely followed for 42 days after transfusion. According to the scientists, no unexpected adverse events were observed in the patients.

However, due to the use of Busulfan, some expected events happened to some patients. Four developed Autoimmune Hemolytic Anemia between 4 and 11 after the transfusion. However, the problem was solved with reconstitution of T-cell immunity.

The best came at the end. At follow-up, all children were cured! That is, they all had their immune cells functional.

How rare is Severe Combined Immunodeficiency with Artemis Deficiency?

Quite! It is estimated that the disease occurs in 1 in every 65,000 newborn babies. Also, there is no cure for the disease. At least, until now.

The research cited above is a great indication that scientists are on the right track. However, there is still a long way to go and more testing to be done.

Graduated in Social Communication at the Federal University of Goiás. Passionate about digital media, pop culture, technology, politics and psychoanalysis.