Rare Cystic Fibrosis Mutations

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system and other organs. A relatively common cause of cystic fibrosis is a genetic mutation called W1282X, for which no drug therapy exists.

This project out of Emory University centers on a novel compound, HDCF 104, which has been optimized by structure-activity studies and medicinal chemistry to yield drugs that robustly rescue W1282X CFTR (cystic fibrosis transmembrane conductance regulator). The work is now being directed towards IND testing in CF patients encoding the W1282X mutation.

The drug in development has also shown activity against at least one other CF-causing mutation (N1303K), which also lacks an available precision therapeutic. The drug is expected to have an estimated $150 million annual revenue, if pricing were set at current third-party reimbursement allowance for other FDA-approved personalized agents for CF.