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Testing CFTR Modulators for Rare Cystic Fibrosis Mutations

This study is testing how well FDA-approved cystic fibrosis (CF) drugs, called CFTR modulators (like ivacaftor, Lumacaftor/Ivacaftor, Tezacaftor/Ivacaftor, and Elexacaftor/Tezacaftor/Ivacaftor), work for people with rare CF gene mutations. The goal is to find personalized treatments for these mutations. Researchers will first test these drugs on cells from your nose in a lab. If the lab tests show a drug might help, you would then receive that drug in a special type of study called an "N-of-1 trial," where you serve as your own comparison. This helps see if the treatment is effective for you. The main way success is measured is by looking at your ppFEV1 (a measure of lung function) after 16 weeks. This study is for people aged 6 and older with CF, and the current status is unclear.

Study design
This study is an interventional N-of-1 trial, meaning each participant tests a treatment and acts as their own control. It plans to enroll 50 participants.
What's involved
You would need to provide informed consent and be able to follow the study schedule. The study involves taking CFTR modulator drugs and having nasal brushings for lab testing.
Compensation
Not stated in the trial record.
Follow-up
Your ppFEV1 will be measured at 16 weeks to assess treatment effectiveness.

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NCT04580368

Testing Drug Efficacy in Cystic Fibrosis Through N-of-1 Trials

Recruiting
NAAges 6+InterventionalTreatment
Children's Hospital Medical Center, Cincinnati
~50 participants
Updated 2026-01-07 on ClinicalTrials.gov
What's tested:CFTR Modulators

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
ppFEV1
Measured over 16 weeks

Conditions

Cystic Fibrosis

Explore related trials

Cystic FibrosisCFTR Gene

Where it's being run

1 sites across 1 states
Ohio1

Who to contact

John Brewington, MD
[email protected]
513-736-0614
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Signed informed consent (and assent when applicable)
Willing and able to adhere to the study visit schedule and protocol requirements
Male or Female ≥6 years old and within the FDA-approved range for the proposed modulator drug
Ivacaftor: ≥4 months old
Lumacaftor/Ivacaftor: 2 years old
Tezacaftor/Ivacaftor: 12 years old
Elexacaftor/Tezacaftor/Ivacaftor: ≥12 years old
At least one rare CFTR variant (incidence of \<5% of the CF population)
Documentation of a CF diagnosis as evidenced by one or more clinical features of CF plus at least one of the following:
Sweat Chloride ≥60mmol/L by quantitative pilocarpine iontophoresis
Two mutations in the CFTR gene
Abnormal nasal potential difference (NPD) testing supportive of a CF diagnosis
FEV1 \> 50% predicted for age
Stable chronic CF therapies with no changes in \>28 days (except for chronic cycled inhaled antibiotics such as tobramycin)
Prescribed CFTR modulator by a licensed physician
No contraindication to treatment with the selected drug at the time of treatment initiation

Exclusion

Presence of any condition or abnormality that, in the opinion of the Investigator, would compromise the safety of the patient and/or quality of the data
For women of child bearing potential:
Positive pregnancy test or known pregnancy at Visit 1
Lactating
Unwilling to practice a medically acceptable form of contraception (acceptable forms include abstinence, hormonal birth control, intrauterine device, or barrier method plus a spermicidal agent), unless surgically sterilized or postmenopausal during the study
BMI \< 10th percentile for age (if \<18 years old) or \< 20kg/m2 (if ≥18 years old)
FEV1 ≤ 50% predicted for age
Growth of CF pathogens from sputum cultures that are associated with unstable disease (e.g., nontuberculous mycobacteria, Burkholderia spp) within six months of enrollment
Concomitant use of CYP3A inducers or inhibitors (e.g., voriconazole, fluconazole, rifampin) or prednisone (\>20mg daily)
Concomitant conditions:
Poorly controlled diabetes mellitus (HbA1c \>8.5 or glucosuria as noted below)
Advanced CF liver disease (cirrhosis with portal hypertension, ascites, or abnormal liver laboratory testing as noted below)
End stage renal disease
History of organ transplantation
Additional medical conditions that in the opinion of the Investigator place the patient at risk of participation or may impact the patient's ability to complete the trial (e.g., uncontrolled depression, anxiety disorder, poor adherence to CF therapies, active ABPA)
Any of the following abnormal laboratory values at the Screening Visit:
CBC
WBC \>15,000 K/mcL or ANC \<1,500 K/mcL
Hemoglobin \<10 gm/dL
Platelets \<50,000 K/mcL
Chemistries
\>2+ Glucosuria
Clinically significant abnormalities as assessed by the Investigator
Glomerular filtration rate ≤50 mL/min/1.73 m2 (calculated by the Counahan-Barratt equation)
Hepatic Function Testing / Coagulation Testing
≥3 × upper limit of normal (ULN) aspartate aminotransferase (AST)
≥3 × ULN alanine aminotransferase (ALT)
≥3 × ULN gamma-glutamyl transpeptidase
Total or direct bilirubin \>2 × ULN
INR \> 1.5 x ULN
Positive pregnancy test

What this trial measures

  • ppFEV116 weeks

    Absolute change in ppFEV1 of 5% or greater