Seeing if CFTR functioncan be restored in CF through patient cells with rare mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter observational study uses patient-derived nasal epithelial cells cultured at air-liquid interface to measure baseline CFTR function and response to CFTR modulators. It combines DNA sequencing, CFTR mRNA analysis, and epithelial gene expression with measurements of mucociliary properties to understand how rare mutations affect CFTR and to identify potential candidates for future trials. Results are intended to guide the design of subsequent clinical trials evaluating safety and efficacy of modulators in individuals with uncharacterized or poorly characterized CFTR variants. The study is cross-sectional and translational, integrating ex vivo functional testing with molecular analyses to inform patient-specific therapeutic options.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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.

Exclusion Criteria:

* 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 it's running

• Azienda Ospedaliero Universitaria Policlinico G. Rodolico - San Marco
  Catania, Italy Recruiting
• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting
• Policlinico di Milano Ospedale Maggiore | Fondazione IRCCS Ca' Granda
  Milan, Italy Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.