Cystic Fibrosis Awareness Week takes place 10th – 16th April 2017. In support of this initiative this blog outlines the background to the disease, the prevalence of it in Europe and the current progression of treatment in recent clinical trials.
Cystic Fibrosis (CF) is a serious, genetic, life-shortening disease. In CF, a protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is not produced correctly, due to small mutations in the CFTR gene. CFTR sits on the outside of cells and acts like a gate: when it opens, salts and water are pumped out of the cell. The faulty CFTR protein means that cells in the lungs and pancreas cannot secrete water, resulting in thick, infection-prone mucus and digestive problems. Treatments for CF include antibiotics to treat serious lung infections; saline and DNAse prevent thick mucus buildup and replacement pancreatic enzymes to ensure good nutrition. Existing treatments and clinical care have dramatically improved life expectancy of patients with Cystic Fibrosis.
Of all the countries in the world the one with the highest rate of cystic fibrosis is Ireland. Almost 3 in every 10,000 people in Ireland suffer from cystic fibrosis and as many as one in every nineteen people in Ireland is a carrier. This is thought to be the highest carrier rate in the world. Outside of Ireland, Europe also sees one of the highest rates of cystic fibrosis in the world. One in 25 people of European descent carries an allele for cystic fibrosis, being most prevalent among Caucasians of European descent
New treatments address the fault in the CFTR protein, rather than the results of this malfunctioning protein and recent clinical trials have proven to have a truly revolutionary effect. Lung function has improved within 2 weeks, maintained with long-term treatment. They also show fewer infections and more weight gain than untreated individuals.
Unfortunately, the cost of these treatments can be in the region of €160,000 per patient per annum, which makes them prohibitively expensive. Hopefully, with ongoing discussions with Government bodies here in Ireland and leading Pharmaceutical companies more affordable treatment can be agreed.
As part of the week long awareness campaign April 13th sees the return of 65 Roses Day in support of Cystic Fibrosis Ireland.
If you would like to know more about Java Clinical Research and our work with Cystic Fibrosis you can read more here.
If you would like to talk to us about running a clinical trial you can reach us here.