What the trial was testing
The trial enrolled 124 patients with cystic fibrosis. The study was sponsored by Vertex Pharmaceuticals Incorporated and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was initial testing (phase 2). Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
Lung function improved by up to 13 percentage points in patients with certain cystic fibrosis gene mutations.
The New England journal of medicine · 2018 · NCT03224351
These findings — that patients with certain gene mutations saw major gains in breathing ability — were published in the The New England journal of medicine and represent the headline result of the study.
Researchers tracked outcomes across 124 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with cystic fibrosis, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
This was an initial testing study. The triple combination later became FDA-approved as Trikafta in 2019 and is now a standard treatment for people with cystic fibrosis who have at least one Phe508del gene mutation. If you have cystic fibrosis, ask your doctor if Trikafta or similar treatments are right for you.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open cystic fibrosis trials
Testing Drug Efficacy in Cystic Fibrosis Through N-of-1 Trials
The purpose of this study is to validate and utilize a personalized medicine approach to identify potential treatments with current FDA approved CFTR modifiers for non-approved CF gene mutations. The study will perform ex vivo testing of CFTR function and current marketed CFTR modulating drugs on expanded nasal cells at Cincinnati Children's Human Nasal Epithelium (HNE) Core Laboratory. The results will be confirmed and translated into bedside care through an N of 1 trial to determine effectiveness of treatment.
Ensuring Access to Optimal Therapy in CF: The ENACT Study
This clinical trial is examining the action and effects of several new drugs in the treatment of cystic fibrosis in children. In addition, several genetic factors are examined. The hope is that the ability to determine prior to treatment those individuals who will or will not respond to existing therapies will avoid needless risk of side effects and the high cost of a potentially ineffective treatment regimen. Understanding the way these drugs work in the body and the best way to study them is critical to expanding the use of these drugs to all patients with cystic fibrosis (CF).