A new drug therapy may represent a tremendous step forward in the treatment of some 70,000 cystic fibrosis (CF) patients worldwide, Dr David Sheppard from the University of Bristol told an audience at the BA Festival of Science in Liverpool.
Speaking at the conference, Dr Sheppard said:
‘The early results with VX-770 suggest that drug therapies which target defects at the root of the disease have the potential to improve greatly the quality of life of CF patients.’
At the moment there is no cure for CF – a common single-gene disorder in the UK. The disease, which affects about 8,000 people in the UK and 70,000 people worldwide, is due to a defective gene that causes ducts and tubes in the body to become blocked by thick, sticky mucus. This mucus affects the lungs, pancreas, the intestines, the liver and the reproductive organs.
One of the most recognisable symptoms of CF is ‘salty sweat’, caused by the failure of the sweat ducts to reabsorb salt. Existing treatments only alleviate symptoms, for example, physiotherapy to clear the air passages, antibiotics for lung infections and enzymes to aid the digestion of food.
The defective gene disables or destroys a protein known as CFTR. To date around 1,500 genetic defects have been found in this protein. In general, genetic defects cause harm in two ways – some stop the protein from travelling to its correct destination in cells, whereas others prevent the protein from working properly.