Breakthrough: Gene Therapy Comes To The Aid of People Suffering From Immunodeficiency Disorder

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Immunity in young adults and children has been successfully restored through gene therapy and comes as a huge help for those suffering from diseases linked to immunodeficiency.

SCID-X1 or X-linked severe combined immunodeficiency is among immunodeficiency-related diseases which could now be treatable, thanks to the new findings.  Researchers will present their findings at the 57th annual meeting of the American Society of Hematology, scheduled between December 5 and 8 in Orlando, Florida.

Mutations in IL2RG gene is responsible for the situation arising from the immune cells designated to fight infection being prevented from proper development and function. According to the background information related to the study, patients with this disease are also at high risk of infections that could also be life threatening. One of the lifesaving treatments for very young children with SCID-X1 is transplantation of stem cells, ideally from a sibling donor who is genetically matched. But, in situations where a matching sibling is unavailable, the patients receive the transplantation from the parent. However, in such instances the immunity only gets partially restored, say researchers from US National Institute of Allergy and Infectious Diseases.

Almost every day, rare and new diseases are discovered across the globe. Unfortunately, that also means that it does take the time to find the best treatment methods to help the patients.

For the new study, researchers examined effectiveness and safety of gene therapy combined with low dose chemotherapy for five CID-X1patients in the age group 7 to 24. All the study participants had received stem cell transplants from their parent, and their immune systems were weakening. The researchers extracted stem cells from the bone marrow and with the help of a lentiviral vector developed in collaboration with the St. Jude children’s Research Hospital to deliver normal IL2RG gene to the cells. The corrected cells were infused back to the patient after a low dose of chemotherapy. The transplanted cells transitioned into the healthy bone marrow and started producing new blood cells.

On account of lungs damage from pre-existing infection, one patient died two years after receiving the gene therapy. This brings into focus the importance of commencing treatment early so that potential organ damages are not irreversible. In the years to come, the surviving patients would continue to be monitored. Three more patients were treated between 3 and six months back and are now beginning to show improvement in immune functions.