BEACON TRANSCRIPT – Medical research has seen a number of impressive results in the past years, some that would have been very hard to even imagine, like the fully 3-D printed prosthetic hand that is to come out next year. However, despite all the progress made in the field, there are still those illnesses that are so devastating that it’s difficult to find hope, much less a cure. Don’t give up just yet, as there is hope for rare immunodeficiency disorder with new gene therapy.
Most of you might be familiar with SCID-X1, although you most likely know it by a different name. Also called X-linked severe combined immunodeficiency, you are probably familiar with the affection’s more colloquial name Bubble Boy Disease. Yes, that’s right. The aggravating Bubble Boy from Seinfeld that eventually ends up messing with the wrong short, balding man was in fact suffering from a real and very serious condition.
Caused by a mutation of the IL2RG gene, SCID-X1 prevents the proper development of the immune cells designed to battle infections. This leaves the patients, which are mostly male, highly sensitive to any type of infection. It leads to a lifetime spent in hospitals and behind a protective screen, and eventually to a slow death.
Up until now, the only treatment would be the following: a genetically matched brother or sister could give stem cells to the patient via hematopoietic stem cell transplantation. This would have to be done periodically, and the patient would still suffer from a vast array of diseases and infections. In the case of those patients without siblings, they would receive the stem cells from a parent, thus only partailly restoring their immunity.
The new treatment was so far tested on 5 patients, aged 7 to 24, and the research was led by Dr. Suk See De Ravin from the National Institute of Health. In association with St. Jude Children’s Research Hospital, the team created the new treatment which consists of collecting the cells, applying a normal gene to them, and then putting them back into the patient after a low dose of chemo.
The findings were overwhelmingly positive, with four of the patients experiencing an amelioration of their symptoms that lasted up to three years. Sadly, one of the patients died, as he had suffered intensive lung trauma in the past.
This shows that there is indeed hope for these patients, as long as the treatment can be started on time. If the treatment is begun too late, the already existing trauma cannot be healed, so the patient will still have to struggle with it. Hopefully, the treatment will soon exit its testing stage, and move on to become available to the public.
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