Testing nasal cells to see how cystic fibrosis treatments might work
Studies nasal cells from people with cystic fibrosis who have rare gene changes.
Key facts
- Who runs it
- Istituto Giannina Gaslini
- Where
- Catania, Genova, and Milan, ItalySee the 3 sites
- Trial code
- Registry title
- A Precision Medicine Approach to Assess Protein Function Loss and the Potential for CFTR Function Restoration in Cystic Fibrosis and Related Disorders
- Status
- Recruiting
- People taking part
- 165 people, planned
- Started
- 1 Sept 2024
- Expected to end
- 31 Dec 2026
- Type of study
- Observational, 4 groups
- Record updated
- 22 October 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with cystic fibrosis who carry rare or poorly understood CFTR gene changes. It also looks at some children with unclear test results, people with CFTR-related disorders, and adults with bronchiectasis of unknown cause. A nasal brushing is used to collect cells.
- Age
- From 28 Days to 65 Years
- Sex
- All sexes can join.
- Disease stage
- Cystic fibrosis with rare or uncharacterized CFTR mutations; or children with a positive newborn screen and an unclear diagnosis (CFSPID); or CFTR-related disorders where cystic fibrosis is ruled out; or adults aged 18 or older with one CF-causing variant and idiopathic bronchiectasis.
- Biomarker or test result
- CFTR gene changes: for cystic fibrosis, a missense mutation or small non-frameshift deletion on one allele, plus an uncharacterized mutation, stop-gain mutation, class II mutation or large deletion on the other. For CFSPID, sweat chloride below 30 mmol/L with two CFTR variants, or 30-59 mmol/L with one or no CF-causing variants.
Main reasons for not taking part
- People who do not meet the entry criteria
- People who do not give signed informed consent or assent
- People who do not agree to the processing of their personal data
The registry criteria, word for word
Show all 7 criteriaShow less
Who can take part
- Adult or pediatric patients diagnosed with cystic fibrosis (CF) who have, on the first allele, a missense mutation or a small deletion (not resulting in a frameshift) that has not been functionally characterized or for which responsiveness to currently available therapies is limited or unknown, AND a second allele carrying another uncharacterized mutation, a stop-gain mutation, a class II mutation, or a large deletion of the CFTR gene; OR
- Pediatric patients with Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID), meeting the following definition: "an asymptomatic newborn with a positive CF newborn screening (NBS) result and a sweat chloride concentration <30 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences; or an intermediate sweat chloride concentration (30-59 mmol/L) and one or no CF-causing variants"; OR
- Adult or pediatric patients with CFTR-related disorders (CFTR-RD) meeting the following criteria: a CFTR-RD-associated phenotype, evidence of CFTR dysfunction, and exclusion of a diagnosis of cystic fibrosis; OR
- Adult patients aged ≥18 years carrying a single CF-causing variant and diagnosed with idiopathic bronchiectasis
- Written informed consent/assent for study participation and personal data processing must be obtained before the initiation of data collection and any study-related procedures
Who cannot take part
- Failure to meet the eligibility criteria for study enrollment
- Failure to provide signed informed consent/assent for study participation or for the processing of personal data
Where in Italy
- Azienda Ospedaliero Universitaria Policlinico "G. Rodolico - San Marco"Catania, ItalyContact: Salvatore LeonardiTaking people
- IRCCS Istituto Giannina GasliniGenova, ItalyContact: Carlo CastellaniTaking people
- Policlinico di Milano Ospedale Maggiore | Fondazione IRCCS Ca' GrandaMilan, ItalyContact: Francesco Bruno Arturo BlasiTaking people
About the trial
What the trial wants to find out
This multicenter translational research study integrates diagnostic analyses and ex-vivo functional testing to support future clinical trials evaluating the safety and efficacy of CFTR modulator treatments in individuals with cystic fibrosis (CF) carrying rare or orphan mutations that may benefit from these therapies.
Read full original descriptionShow less
Patient-derived nasal epithelial cells will be collected through standardized nasal brushing procedures, expanded, and cultured under air-liquid interface conditions to generate differentiated epithelia. Short-circuit current measurements will be used to assess baseline CFTR dysfunction and evaluate functional recovery following treatment with available CFTR modulators. These results will be complemented by DNA sequencing to identify complex alleles, quantitative and qualitative CFTR mRNA analyses to investigate gene expression and splicing defects, and assessments of epithelial transcriptomics, surface liquid viscosity, and mucociliary transport to identify additional mechanisms contributing to CF-like lung disease.
The study will not include patient follow-up. The duration of participation will be limited to the time required to perform and analyze the nasal brushing procedure. Baseline CFTR activity will be compared with previously published data from individuals without cystic fibrosis.
The 4 groups in the trial
- Patients with cystic fibrosis
- children with CFSPID
- patients with idiopathic bronchiectasis
- Patients with CFTR-related disorder
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Un Approccio di Medicina di Precisione Per Valutare la Perdita di Funzione Proteica e il Potenziale Recupero di CFTR in Fibrosi Cistica e Patologie Correlate / A Precision Medicine Approach to Assess Protein Function Loss and the Potential for CFTR Function Restoration in Cystic Fibrosis and Related Disorders
- Plain-language title
- Testing nasal cells to see how cystic fibrosis treatments might workGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 13 November 2026.
- Record updated
- 22 October 2026