Cystic Hallelujah


Cystic Fibrosis is an inherited genetic condition, where specialised cells called epithelial cells, found in the lining of vessels (like the lungs, the intestines, the reproductive ducts…) do not function correctly. Normally, they would produce mucus, a slimy substance that reduces friction and allows substances to pass through the tracts more easily, but when suffering from Cystic Fibrosis, the mucus becomes less runny, so it is not as efficient at lubricating.

The most common treatment is physiotherapy, where an expert massages the chest area to help move the mucus along. This is an important area to do so, since if the mucus in the lungs gets stuck, it could house bacterial infections and cause trouble breathing. But as much as this may help, it still doesn’t cure CF, so infected people may still die quite young (around 40 years old).

A possible solution which has been considered for over a quarter of a century, since the single gene responsible for causing CF had been identified, has been gene therapy. This technique consists of introducing a healthy version of the gene into the cells of an infected person, and using it to replace the mutated version. However, there are several complications involved, and it has never been fully possible to carry this out and obtain good results. But not anymore.

liposome

A liposome is a phospholipid bilayer, which can fuse with cell membranes and release the gene it contains

In a new study carried out on 116 infected people, half received a gene therapy treatment, and half received a placebo. The treatment was a solution of liposomes that carried the desired gene inside them, and which the participants had to inhale so it could easily reach the lung cells. Although both were administered for 9 months, their effects were measured until after 12 months, and to do so researchers in charge measured the volume of air participants would breathe in and out in a set period of time. The results didn’t disappoint. People treated with gene therapy not only saw a stabilisation in their lung performance, instead of the disease’s characteristic downfall, but also had 3.7% better breathing capability than those people who had been given a placebo.

Although it may not sound like an impressive feat, it certainly is. Consider this is only the first time this has ever actually worked, and that it was a scaled down version of the treatment. The dose could definitely be increased so the effects are much greater. And even if the change seems small, it could postpone the need for lung transplants for decades.