In one newspaper account, Dr. Robert J. Beall, at the time executive vice president for medical affairs of the Cystic Fibrosis Foundation in Bethesda, Md., said: “Parents should be absolutely optimistic and excited about this. We have been in a bottleneck and now we have magnificent opportunities before us.”
Having genetic probes for the CFTR gene and identifying the disease causing mutations, first DF508 and then others, led first to genetic tests that could identify people and fetuses who carried one or two copies of the mutated gene. More slowly, it also helped produce an understanding of what the gene product did, and how it might be fixed. A good account of the long and winding CFTR research road appeared in Nature 2 years ago.
“The initial discovery of the gene was critical,” Dr. Ramsey told me. Without that, “we couldn’t have known what the gene did or what were the problems” with the mutated forms. “Twenty years sounds like a huge amount of time, but when you think of what had to be learned, understood, and developed it’s not long at all. We thought that when the gene was discovered we’d have it done in 5 years, but that wasn’t realistic.”
Treatment for most CF patients, with the DF508 mutation, will be more of a challenge because their mutated protein doesn’t even reach the surface of cells, meaning treatment requires a second agent to get the protein in position where ivacaftor could help it function. The same company, Vertex, has a pair of candidate drugs designed to do this that are now in human tests, said Dr. Ramsey, and she expressed some optimism that with this approach a treatment for most other CF patients may also eventually become possible. With time.
---Mitchel Zoler (on Twitter @mitchelzoler)