Scientists found a monumental breakthrough in finding a cure for a rare immunodeficiency disorder. They found that gene therapy can rebuild the immune systems of older children and young adults who are suffering from the rare disorder.
Medical Daily reports that a group of scientist from the National Institute of Allergy and Infectious Diseases (NIAID) have found a possible cure for a disorder called X-linked severe combined immunodeficiency (SCID-X1). This disorder is caused by mutations in the IL2RG gene and it mostly affects males. In effect, it stops immune cells that fight infection from developing correctly making the patients highly vulnerable to life-threatening infections.
Reportedly, the study will be presented by Dr. Suk See Da Ravin of the NIAID at The American Society of Hematology 57th Annual Meeting in Orlando, Fla.
As of now, the only treatment available for SCID-X1 among babies is stem cell transplants. Most ideal is to find a match from genetically-compatible sibling donor and in some cases where there's none, a parent can donate stem cells. However, this can just partially restore immunity. In any case, patients who are undergoing this treatment are in for a long haul. They also have the tendency to experience complex medical problems like chronic infections.
In the study, the scientists examined the safety and effectiveness of gene therapy combined with low-dose chemotherapy in five SCID-X1 patients. These patients were all suffering from declining immune systems despite previous transplants by parents. The patients were between age 7 and 24. Using lentiviral vector, normal IL2RG gene was transported to the stem cells, after removing the stem cells from the participants' bone marrow. After a low-dose chemo, the stem cells were inserted back into the patients. This helped the stem cells adjust and start producing new blood cells.
Two of the patients who received the therapy showed significant improvements in immunity and clinical status. One patient is still showing improvements three years after therapy. Unfortunately, one patient didn't make it due to pre-existing infection-induced lung damage two years after the gene therapy.
Patients who received this therapy just 3 and 6 months ago are also showing great improvements in immune functions. The scientists are continuously monitoring the surviving patients.
They hope to conclude the safety and effectiveness of lentiviral gene transfer as a treatment for children and adolescents with immunodeficiency.