Janet Allen, Director of Research, gives her final research perspective on the North American Cystic Fibrosis Conference
Despite it being the last day there is still a buzz around the conference centre, with people scurrying between sessions. The day started off with an excellent plenary talk on cystic fibrosis-related diabetes. It provided a superb example of how to integrate basic science and clinical research to get the best value.
I spent the rest of the day getting my "fix" on the science around the structure of the CFTR molecule. There is an amazing amount of work across the world trying to understand how a complex molecule like CFTR folds within cells to allow it to function and how mutations in the gene affect that folding pathway. Although this research may seem esoteric, it is this detailed understanding that is the foundation for the discovery of new drugs that will help people with cystic fibrosis.
One highlight of the morning session was the presentation of a small clinical trial for ivacaftor (Kalydeco) in people who have genetic mutations in CFTR that affect its gating. These are very rare mutations and so standard Phase 3 trials are difficult to perform. Only 39 patients were involved in this trial but the data is promising as the results were very similar to those for people with G551D taking ivacaftor.