NCT07889973Recruiting
A Precision Medicine Approach to Assess Protein Function Loss and the Potential for CFTR Function Restoration in Cystic Fibrosis and Related Disorders
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
Source: ClinicalTrials.gov · Last updated 22 Oct 2026
Brief summary (registry, in English)
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. 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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 165 (estimated)
- First submitted
- 12 Oct 2026
- Start date
- 1 Sept 2024
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Istituto Giannina Gaslini
- Diseases
- Cystic fibrosis
- NCT number
- NCT07889973
What you commit to
- Study type: Observational
- Planned participants: 165
- From 1 Sept 2024 to the primary completion date, 31 Dec 2026
- 3 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- 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.
Who the study is looking for
- 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.
Age in the registry: 28 days to 65 years · Sex: All
Sites (3)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Azienda Ospedaliero Universitaria Policlinico "G. Rodolico - San Marco" Coordinator of this site? Confirm its status | Catania | Italy | Recruiting |
| IRCCS Istituto Giannina Gaslini Coordinator of this site? Confirm its status | Genova | Italy | Recruiting |
| Policlinico di Milano Ospedale Maggiore | Fondazione IRCCS Ca' Granda Coordinator of this site? Confirm its status | Milan | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.