samples available could the company collaborate with partners to do the needed research.
Finally, Mueller made the observation that it was important in cystic fibrosis research to translate results from in vitro systems into the clinic. However, the large number of different mutations complicates the process of finding patients who can benefit from particular therapies. Genotypic and phenotypic strategies need to be combined to facilitate this process.
Small-sample randomized clinical trials known as N-of-1 trials could be a way of generating valuable data (Lillie et al., 2011). First used in the 1960s for behavior research, N-of-1 trials rely on randomized, placebo-controlled, repeated crossovers in a single individual. Remote clinical phenotyping, including ambulatory and home monitoring, has greatly increased the practicality of such trials, and methodologies now exist to aggregate multiple N-of-1 trials to generate information similar to that generated by a large clinical trial. The result would be probability characteristics for markers to use for therapeutic benefit, and discussions are under way with regulatory agencies to enable the use of such information.
“The normal, standard stuff doesn’t work when you have only three patients in the world that have one SNP,” Mueller said. “We have to be creative and go a new way.” New paradigms are needed that can bring benefits to small groups of people. “That’s where the world will go, and we will be part of it.”