Robert J. Beall, PhD, recounted the joy of hearing a cystic fibrosis patient’s wedding plans this summer. Beall, the president and CEO of the Cystic Fibrosis Foundation, a Research!America member, remembers it wasn’t long ago when CF patients weren’t expected to live long enough to attend elementary school.
But the strides made in identifying the root cause and finding a treatment for cystic fibrosis. Beall believes his organization’s success has created a “road map” for finding treatment for other rare diseases — “from test tube to bedside,” Beall said — and he outlined that map a briefing in the Senate last week. The briefing was held by FasterCures, also a Research!America member.
The process started with identifying the differences between a normal lung and a lung from a person afflicted with cystic fibrosis. Research led them to a hypothesis: Chlorides weren’t exiting the lung cells properly, though sodium was able to pass through normally. The result was a backup of material in the cell — “like a salt shaker,” Beall said — which in turned caused the cilia not to funcion properly.
After finding out what the problem was, the next step was to understand why the problem was occurring. The answer came in 1989 when a team of researchers (including Francis S. Collins, MD, PhD, now the director of the National Institutes of Health who had also worked on cystic fibrosis research at the University of Michigan) discovered the gene that led to cystic fibrosis.
Discovering the gene offered the chance to perform animal models, implement new screening programs and perform further research on gene therapy. And the discovery came at an opportune time; Beall said the research had been stalled for some time prior to the discovery of the gene.
With a therapeutic option in hand, the next step was finding a compound that would allow for the normal movement of chlorides outside of the cell. Relying on the normal model of academic research would’ve meant allowing two or three days to test only a handful of options.
“We had to look to industry,” Beall said.
And this was where the process reached a critical point. The Cystic Fibrosis Foundation entered into a $40 million contract with a San Diego-based firm that could test tens of thousands of compounds per day. The hope was that, once a compound was identified, the information could be sold for further development.
Indeed, it was.
“How could we incentivize them?” Beall said. “Take away their risk.”
But by taking away private industry’s risk, the Cystic Fibrosis Foundation took on significant risk of its own.
“We paid $40 million for one shot on goal,” he said. “We could’ve failed.”
Instead, they succeeded. The process yielded two compounds — VX70 and VX809 — that treated the basic defect of cystic fibrosis. A third compound, VX770, is now in the third stage of clinical trials, and as many as 30 other drugs are in the development pipeline.
Beall urged other groups to take the risk as well, believing the risk could pay off.
