Last week we shared a powerful story of patient advocate Taylor Lookofsky, a young man with IPEX syndrome. In his speech, he talked about the impact the condition has had on his life. Taylor shared this speech a few weeks ago right after the CIRM Board awarded $5.53 million to Dr. Rosa Bacchetta for her work related to IPEX syndrome.
But this begs the question, what exactly is IPEX syndrome? What is the approach that Dr. Bacchetta is working on? For those of you interested in the deeper scientific dive, we will elaborate on this complex disease and promising approach.
IPEX syndrome is a rare disease that primarily affects males and is caused by a genetic mutation that leads to a lack of specialized immune cells called regulatory T cells (Tregs).
Without the presence of Tregs, a patient’s own immune cells attack the body’s own tissues and organs, a phenomenon known as autoimmunity. This affects many different areas such as the intestines, skin, and hormone-producing glands and can be fatal in early childhood.
Current treatment options include a bone marrow transplant and immune suppressing drugs. However, immune suppression is only partially effective and can cause severe side effects while bone marrow transplants are limited due to lack of matching donors.
Dr. Rosa Bacchetta and her team at Stanford will take a patient’s own blood in order to obtain CD4+ T cells. Then, using gene therapy, they will insert a normal version of the mutated gene into the CD4+ T cells, allowing them to function like normal Treg cells. These Treg-like cells would then be reintroduced back into the patient, hopefully creating an IPEX-free blood supply and correcting the problem.
Furthermore, if successful, this treatment could be adapted for treatment of other autoimmune conditions where Treg cells are underlying problem.
The goal of this work is to complete the work necessary to conduct a clinical trial for IPEX syndrome.