Scientists believe that gene therapy might restore the immune system for patients suffering from a dangerous condition that renders them vulnerable to disease. It’s good news for those with a rare immunodeficiency disorder that might eventually save their lives.
Researchers targeted X-linked severe combined immuno deficinecy, otherwise known as SCID-X1. It’s a disease caused by a mutation in the IL2RG gene, usually affecting males. It deems the patients as highly vulnerable to infections, which may also turn them into life-threatening conditions. This essentially means that their bodies do not produce functional white blood cells, which aid in the body’s fight against diseases.
With proper treatment early on, it’s manageable. However, it still threatens to shorten their lifespan.
Infants born with SCID-X1 required stem cell transplants, from either a sibling or a parent. This could effectively save their lives by restoring part of their immune system, but it’s far from enough. Patients would still have to go through life with a malfunctioning system and probably chronic infections. This likely means that hospital visits would often have to occur if every single disease could become life-threatening.
And the stem cell treatment would have to be repeated.
Fixed the IL2RG gene
Instead, scientists tested the effects of treating the disease with gene therapy mixed with low-dose chemotherapy. They conducted the study on five patients between the ages of 7 and 24 years old, all of whom still faced a worsening condition in spite of normal treatment. They removed stem cell from the participants’ bone marrow, and delivered normal functioning IL2RG genes with the help of a lentiviral vector.
Then, they inserted the corrected stem cells back into the patient with a low dose of chemotherapy. This developed into a healthy bone marrow and aided the system in producing well functioning white blood cells.
Two of the patients who received the treatment showed significant improvements in their immune system, even three years after. Only one of them unfortunately perished, due to a pre-existing condition that damaged their lungs before the new therapy could be applied. The researchers realized and emphasized the importance of beginning the new treatment as early as possible.
The remaining participants have received their treatments between 3 to 6 months ago, are showing improvement and pose as a promising result. Researchers will condone further study on the both the efficiency and the safety of the lentiviral gene transfer for both children and adolescents. Hopefully, this will become the prime therapy to help those with immuno-compromised systems due to SCID-X1.
Image source: yourgenome.org