Gene Therapy Holds Hope for Immunodeficiency Disorder Patients

Gene therapy holds hope for immunodeficiency disorder patients according to a new study conducted by scientists with the National Institute of Allergy and Infectious Disease (NIAID).

Targeting a safe rebuild of immune systems negatively affected by immunodeficiency disorder, NIAID scientists have found that a combination of low dose chemotherapy and gene therapy was successful in a small scale study.

The two-factor treatment could help older children, teenagers as well as young adults battling the disorder with rebuilding their immune systems in case transplants from parents or siblings fail. The rare immunodeficiency disorder is called SCID-X1, short from X-Linked severe combined immunodeficiency. The rare form is caused by mutations of a gene called IL2RG and it prevents immune cells from following a normal development pattern.

For patients with the rare form of the immunodeficiency disorder, this means that they are constantly exposed to infections that may be potentially fatal. Currently, patients suffering from SCID-X1 are treated with stem cell transplants. Ideally, the stem cells come from a sibling who is a genetic match.

Another possibility is that stem cells are collected from a parent. However, this second option only yields partial results regarding the safe restoration of immune cells. Both options also pose high risks in terms of chronic infections and other severe conditions and require continuous medical attention and lifelong treatment.

Looking for an alternative treatment pathway, NIAID scientists found that gene therapy holds hope for immunodeficiency disorder patients. Gene therapy was tested in addition to low-dose chemotherapy. The small scale study included five patients diagnosed with SCID-X1, aged 7 to 24.

According to the press release, all five patients presented a worsening of the condition despite having received stem cell transplants from their parents. As such, the NIAID scientists collected stem cells from the bone marrow of each of the five patients participating in the study.

Using a lentiviral vector, the scientists included a healthy IL2RG gene in the stem cells. Before transplanting them back, the patients received low dose chemotherapy. This helped greatly in stabilizing the newly inserted stem cells and triggering the production of new immune cells.

The study yielded good results according to a press release. One of the patients is still improving even after three years from the treatment. Another three patients are already showing signs of improvement albeit having received the treatment 3 to 6 months ago. One patient has unfortunately passed away due to a pre-existing infection affecting the lungs.

Photo Credits: Flickr