Two CF Victories
There are an estimated 30 000 patients (1 in 3900 births) in the US with cystic fibrosis (CF). This is a life-limiting, multisystem disease characterized by thick viscous secretions leading to recurrent lung infections, bronchiectasis, and progressive deterioration in lung function. CF is caused by loss or dysfunction of the CF transmembrane conductance regulator (CFTR) protein -- it is an inborn disease caused by at least 1900 different mutations in one gene. CF has been difficult to treat since it was first found.
In the past several years, two giant victories have been made on two fronts. On one was the development of the first truly breakthrough drugs -- VX-770 (now called Kalydeco) and VX-809. These are now in Phase III trials. While targeting only about 5% of CF patients, they provide a basis for developing other ‘personal' drugs.
The victory on the second front is the continued progress in developing gene therapy with the hope that it will essentially curve the disease. For example last year "a full-length plasmid encoding the cystic fibrosis transmembrane conductance regulator protein was achieved in the mouse lungs and airway cells, including a primary culture of mucus-covered human airway epithelium grown at air-liquid interface, without causing acute inflammation or toxicity". Highly compacted mucus penetrating DNA nanoparticles hold promise for lung gene therapy. And another study concluded "that CFTR-mRNA transfection could comprise a novel alternative for gene therapy to restore impaired CFTR function."