Cystic Fibrosis: 2020 Gene Therapy

Cystic Fibrosis (aka: Muco-viscidosis) is a genetic disorder that affects the lungs as well as the pancreas, liver, kidneys, and the intestines. Individuals with CF have difficulty breathing, cough up mucus as a result of frequent lung infections, sinus infections, poor growth, fatty stool, clubbing of fingers and toes, and infertility in males. (There are many other symptoms) (B) The degrees in which people with CF have the symptoms listed above varies on a case by case basis. This chronic disease is inherited as an autosomal recessive way where there are mutations in both copies of a gene for the CF transmembrane conductance regulator protein. (CFTR) Those who have a single copy are carriers of the disease and are normal functioning/looking individuals. As of today, there is no cure for CF and lung infections are treated with antibiotics that can be received intravenously, inhaled, or by the mouth. (B) 

Introduction: 

In 1989, scientists failed to find a cure for cystic fibrosis although the faulty gene that causes CF was located. But with the use of experimental gene therapy (a technique where copies of normal genes are inserted into the cells DNA to counter the effects of the faulty gene) is giving hope for individuals suffering from CF. (C) Cystic Fibrosis (being the most common life-threatening inherited disease especially in the UK, shorting lives of many) was an early and clear target for scientists to further investigate gene therapy when the mutated gene that causes it.The results of a year-long trial showed only a small and variable improvement in the lung capacity of those children and adults who took part, but scientists now believe they have proved gene therapy is possible in treating cystic fibrosis. (A) After years of attempting to develop gene therapy for CF, recent research shows that a treatment for CF might be available within the next 5 years. Although results of first trial were ‘modest and variable’, second bigger trial aims to combine gene therapy with other treatments for longer term benefits. With more work, researchers say that they will be able to at least help stabilize these patients. (A) 

Research: 

The Royal Bromptom and Harefield NHS Foundation Tust and the NHS Lothian came together in 2001 to develop a gene therapy which was supported by the Cystic Fibrosis Trust. They were able to develop a technique where patients could breathe in molecules of DNA where a normal copy of the defective gene could travel to the cells of the lung. A trial of a total of 136 patients (ages 12 and older) showed results of better lung functioning in those who were given the gene therapy. This was the first demonstration that repeated gene therapy to improve lung function. Eric Alton (coordinator of UK Cystic Fibrosis Gene Therapy Consortium) stated that, “The effects were modest and variable. This is not yet ready for clinical use for those reasons. (A)” At Western General Hospital and the Royal Bromptom half of their patients were treated with gene therapy and the other half were give saline. Those with the best results were those who suffered from the worst lung function. The mucus obstructs the smaller airways so that most of the doses end up in the larger airways instead. Those with milder lung troubles would have to receive a larger dose to get the same results. (A) Unfortunately, the scientists were unable to make permanent changes to the faulty gene. According to the trial published in the 'Journal of Lancet Respiratory Medicine' patients were dosed only once a month and soon realized that increasing the dosages showed a direct correlation to improved results. In larger trials the goal will be to combine gene therapy with other treatments. (A) A new trial may be able to give patients benefits that last much longer through the injection of a specially engineered virus rather than injecting them in fat globules (aka: the method physicians use today in treating CF) This form of treatment was not considered much because repeated dosages treatment through a virus would cause the immune system to reject it. If the next trial shows a bigger benefit, said Alton, it would be feasible to have a treatment to improve lung function available for patients by the end of the decade. The aim would be to prevent damage to the lungs occurring. (A) “The lungs must be one of the worst possible organs to go for,” said Alton. “They are so extremely well-defended. With bone marrow you can take it out, do the gene transfer in controlled conditions in the laboratory and put it back in the patient. That is the low-hanging fruit. We have gone for the high-hanging fruit but I’m not at all sorry we have.(A)” 

Concluding Remarks:

Since gene therapy is still such an experimental process where there are very few treatments discovered through this technique which only apply to very rare diseases, there needs to be continuous investments, innovative approaches to genetic research, and creating advancements for diseases such as CF which cuts many young people's lives. There is no doubt that this study with experimental gene therapy is inspiring scientists and physicians world wide to explore more of this technique to target other genetic conditions as well as cancer.

Links:
(A)http://www.theguardian.com/science/2015/jul/03/gene-therapy-cystic-fibrosis-2020-scientists
(B) wiki/CF
(C)http://www.aljazeera.com/programmes/thecure/2015/08/gene-therapy-cystic-fibrosis-150817115228509.html

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