According to a story from news-medical.net, a team of researchers from UCLA have successfully developed an approach that allows for the reversal of the mutation that is responsible for the rare, life threatening condition IPEX syndrome. The process involved modifying stem cells so that they were free of the mutation. These stem cells then produce mutation-free blood cells.
About IPEX Syndrome
IPEX (immunodysregulation polyendocrinopathy enteropathy x-linked) syndrome is a rare genetic disease. This syndrome is caused by a mutation affecting the FOXP3 gene, which plays a role in managing the regulatory T cells. Without this regulatory function operating normally, symptoms of autoimmune disease soon begin to appear. These symptoms may include enlarged lymph nodes or other lymph node disease, diarrhea, weight loss, poor growth, anemia, kidney and/or liver dysfunction, hypothyroidism, dermatitis, other skin conditions such as bullous pemphigoid, and damage to the nails. Complications of the syndrome include diabetes. Treatment for IPEX syndrome may include corticosteroids, rituximab, FK506, cyclosporin A, granulocyte colony stimulating factor, and bone marrow transplant. Prevalence of IPEX syndrome is estimated at one in every 1.6 million people. To learn more about IPEX syndrome, click here.
About The Study
This method is very similar to the one that Dr. Donald Kohn, who spearheaded the project, had previously developed as a cure for severe combined immune deficiency (SCID). While the approach has yet to be used on human subjects, it was able to successfully work in a mouse model of the disease. Using viral vectors, the scientists were able to successfully transfer genetic material to the stem cells in the mice. Once the corrected gene was inserted into the stem cells, they began to produce healthy blood cells that had no FOXP3 mutation. As a result, the treated mice had no symptoms of IPEX syndrome not long after the completion of the procedure.
These results are certainly promising and the next step of the process is to test the approach in human IPEX syndrome patients. For human trials, stem cells would be extracted from the marrow of the patient, modified with the corrected gene in the lab setting, and then transplanted back into the patient.
Check out the original study here.