Cystic fibrosis is at the forefront of precision medicine with a new class of drug called CFTR modulators. However, CFTR modulators are only approved for a limited number of CFTR mutations leaving some patients without access. We conducted a N-of-1 clinical trial of ivacaftor versus placebo in patients with CF and clinical signs of residual CFTR function. Some CF patients with residual CFTR function have decreased sweat chloride concentration with ivacaftor. Increased chloride current in HNE cultures among subjects with decreased sweat chloride concentrations may predict clinical response to ivacaftor.

We have found that minorities are proportionally underrepresented in CF pharmacology clinical trials compared to the CF population. Over 80% of CF pharmacology clinical trials did not even report subjects’ race and ethnicity. We are investigating how chronic medications are used differently in minority patients and how this affects pulmonary function and other disease outcomes. 

Publications:
In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies

Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis

Minorities Are Underrepresented in Clinical Trials of Pharmaceutical Agents for Cystic Fibrosis

In response to “who are the 10%? – Non eligibility of cystic fibrosis (CF) patients for highly effective modulator therapies”

Triple Therapy for Cystic Fibrosis with a Phe508del CFTR Mutation

Normalization of sweat chloride concentration and clinical improvement with ivacaftor in a patient with cystic fibrosis with mutation S549N