We are happy, confused, and a little lost.
My head is like mashed jelly, so I won’t write too much, but essentially, after 18 years of waiting for clinical trials for drugs that actually treat the underlying cause of his disease, rather than just the symptoms, we now have more than one option. We cannot jump from trial to trial, and may be committed to one trial for many months, or even years. The decisions we face are huge. Or maybe not? Maybe we can’t access each of the trials anyway?
I spend hours writing lists of pros and cons of each in my mind. Efficacy, duration, risks, location, long term treatment options… assuming he passes the screening for the trial in the first place.
You can learn more about our gene therapy options here - including yours truly.
Image. The closest I’ve got to a picture of Isaac and I in years.
The two upcoming trials, which will be recruiting in the coming months, are both hugely promising, but also very different;
Gene therapy – new copies of the healthy CFTR gene
Known as gene therapy, the aim of this method of genetic therapy is to add healthy copies of the CFTR gene into the cells that line the lungs. The cells’ protein-making machinery will read the instructions from the healthy copy of the CFTR gene and make a fully-functioning copy of the CFTR protein. The tricky bit is getting enough of the healthy copy of the gene to where it needs to be in the cell in a safe and effective way.
mRNA therapy – extra protein-making templates
DNA is stored in a protected compartment within cells called the nucleus. In the production process for making proteins, a copy or ‘template’ of the DNA is made in the nucleus by a similar chemical called ‘mRNA’. mRNA is then transported out of the nucleus and used as a template for making the protein. When a gene is faulty, as in the case of the CFTR gene in cystic fibrosis, the protein-making-template mRNA will also be faulty. mRNA therapies work by adding undamaged protein-making templates for the CFTR protein into the cell. Like gene therapies, a tricky part of developing an mRNA therapy is working out how to add the healthy mRNA into the cell safely and effectively.
There are just 5000 people, world wide, with the rare CF mutations that Isaac and the others in the last 10% have, which excludes them from taking current CFTR modulators (CF wonder drugs, for many).
More soon, when my brain stops feeling like it’s working through the secretions of a snail.
We have hope, and as hard as these decisions feel, how lucky are we? To live in a part of the world where access to these trials, thanks to our NHS, are even possible x
