For decades, medical researchers and scientists have meticulously studied cystic fibrosis and its underlying causes. Now, after amassing an incredible wealth of information on this genetic illness, focus is beginning to shift towards a cure (one currently does not exist).
One potential cure for cystic fibrosis comes in the form of gene therapy.
Since cystic fibrosis is a genetic disease – the result of mutations in the CFTR gene, to be exact – it is hoped that replacing the mutated gene with a functional version of the gene can cure the disease once and for all.
So how does gene therapy work?
The basic principle is simple: the functional version of the gene is extracted from healthy tissues and loaded into a virus (the virus is modified so that it can’t cause disease when used in people).
In theory, the virus – carrying the functional gene – would then be injected into the individual with cystic fibrosis. This virus would replicate the functional gene across the cells of the individual under consideration.
Interestingly enough, this gene therapy approach has been successfully used to treat other diseases, such as adenosine deaminase (ADA) deficiency.
Clinical trials of gene therapy for treatment of cystic fibrosis took place as far back as the 1990s. For example, a 1993 study of gene therapy for individuals with cystic fibrosis saw some mild success. The researchers noted that the study represented “a small step in achieving long-term improvement of CF lung function by gene therapy.”
This study was followed up by gene therapy experiments in 1996, published in the Journal of Clinical Investigation. However, that study also discovered that immune system responses in the individuals receiving the therapy limited the effectiveness of the gene therapy approach.
Because of these less-than-impressive results, researchers began investigating alternative avenues for gene therapy. Instead of using viruses – which can trigger an immune system response even if they are benign – scientists tried “packaging” the functional CFTR gene in tiny molecular bubbles known as liposomes. This showed some promise in early clinical trials, but challenges remain.
Finally, a recent review (open access) of gene therapy as a cure for cystic fibrosis noted that “proof-of-concept that gene therapy can improve CF lung disease is currently lacking.”
Fortunately, though, new research studies are underway – entailing newer and innovative gene therapy strategies. Advanced genetic approaches (using the much-discussed CRISPR technology) have proven that – in the lab environment – the CFTR mutations that cause cystic fibrosis can be corrected.
Much research still needs to be done, however – so the JWLS watch brand will continue to stand strong with the CF community and commit financial resources to organizations fighting cystic fibrosis.