Thirty years ago, I treated a woman in her mid-twenties with Cystic Fibrosis. I am an adult pulmonary physician and she was one of the few CF patients I treated, as at the time, median life expectancy for someone living with CF was 14 years. This woman was one of my favorite patients – hopeful yet realistic, meticulous about her self-care, but also one of the most selfless individuals I have ever met, as one of the leaders of a major international relief organization. She knew the bleak story of her disease. Every time she saw me, she would push – on my views of the latest research, whether it could be accelerated, why it takes so long – and lament that people are dying way too young. She ended up being one of those – but the world is a better place with memories of someone so gracious but also driven. Someone wanting action.
The progress made in the treatment of cystic fibrosis is a great example of what can happen when scientific research, public policy, patient advocacy and biotechnology investment align toward a common goal. Today, patients with cystic fibrosis have a median life expectancy of 37 years – more than double what it was. That is not evolution. That is medical innovation. I recently learned that a friend with whom I trained had become head of pulmonary at a major academic children’s medical center. When I asked him why, he told me more and more of the kids who start treatment at the center are growing up and need an adult pulmonary physician to take care of them. That was simply not the case 30 years ago.
That progress was initially driven by government supported basic science investment in CF, resulting in the identification of the genetic cause in 1989. That knowledge of the underlying genetic cause and the bad things it triggered lead to attempts to develop drugs to treat CF over the last 30 years. Many of those attempts failed, but several succeeded and greatly contributed to that doubling of life expectancy. A lot of it was relentlessly driven and supported by the Cystic Fibrosis Foundation, the major patient advocacy group and a big supporter of research. FDA also played an important role and was responsive to the need.
But more has to be done. Even with those drugs, patients’ lungs are not normal and deteriorate. The best evidence is again median life expectancy – yes doubled, but still half the norm which is today almost 80 years for the general population.
Today one of Canaan’s companies, Spyryx Biosciences, announced the results of its first human trial in patients with CF at the annual meeting of the European Cystic Fibrosis Society. The results look really promising, improving patients’ lung function as we try to move the lungs back toward normal. Whereas other drugs on the market have successfully targeted the CFTR channel, this one may become the first to successfully modulate the ENaC channel. The inhaled therapeutic can also be used regardless of which specific CF mutation a patient has – and in complement with the other drugs out there. It is early but really exciting for patients and the health care providers who help them.
And exciting for me on a very personal level. In my lifetime, if I can be even a small part of moving life expectancy of patients with CF to 80 years - helping patients see their kids graduate, have families, have grandchildren - I will be very happy. They deserve it.
But my patient’s question still rings in my ears: why does it take so long? If I am a patient, the question remains as relevant as when it was asked 30 years ago.