CFTR Gene and Cystic Fibrosis: Mutations and Clinical Trials
The CFTR gene sits on chromosome 7q31.2, and its full name is CF transmembrane conductance regulator. Orphanet links CFTR to 6 rare conditions and lists variants in the gene as a cause of 2 of them. Trial Friend's Cystic Fibrosis page lists CFTR among the genes behind the condition. As of September 29, 2026, 21 recruiting or soon-opening trials on ClinicalTrials.gov name CFTR as a gene.
Other symbols for CFTR in gene databases: ABC35, MRP7, TNR-CFTR, dJ760C5.1.
What the CFTR gene does
CFTR makes a channel that moves chloride in and out of the cells that produce mucus, sweat, saliva, tears and digestive enzymes. That flow of chloride helps keep mucus thin and slippery.
Summarized from the CFTR page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
CFTR and Cystic Fibrosis
These condition pages list CFTR among the genes behind the condition, checked against genetics references when each page was written.
The condition usually appears only when both copies of the gene carry a disease-causing variant. One variant alone usually means a person is a carrier.
Biallelic CFTR variants cause CF; the specific variants determine eligibility for CFTR modulator drugs.
CFTR mutation clinical trials
These recruiting or soon-opening trials mention CFTR as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
21 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to CFTR gene mutations
Orphanet records how each gene relates to each condition. Orphanet links CFTR to 6 rare conditions and lists variants in the gene as a cause of 2 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Raises risk. Some variants raise the chance of the condition without guaranteeing it.
- Being studied. Researchers suspect a role that isn't confirmed yet.
CFTR genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on CFTR.
CFTR gene questions
What does the CFTR gene do?
CFTR makes a channel that moves chloride in and out of the cells that produce mucus, sweat, saliva, tears and digestive enzymes. That flow of chloride helps keep mucus thin and slippery. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with CFTR gene variants?
As of September 29, 2026, 21 recruiting or soon-opening trials on ClinicalTrials.gov name CFTR as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 180 open trials for Cystic Fibrosis, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the CFTR gene?
Orphanet links CFTR to 6 rare conditions and lists variants in the gene as a cause of 2 of them. They include Cystic fibrosis, Congenital bilateral absence of vas deferens, Male infertility with azoospermia or oligozoospermia due to single gene mutation, Aquagenic palmoplantar keratoderma, Autosomal recessive hereditary chronic pancreatitis and Idiopathic bronchiectasis. Orphanet is the European rare disease database run by INSERM in Paris.
How is Cystic Fibrosis inherited?
The inheritance pattern is autosomal recessive. The condition usually appears only when both copies of the gene carry a disease-causing variant. One variant alone usually means a person is a carrier. Biallelic CFTR variants cause CF; the specific variants determine eligibility for CFTR modulator drugs.
What does a CFTR variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- CFTR gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.