Cystic Fibrosis (CF)VALPERPRO-CFTRNCT07889973
A Precision Medicine Approach to Assess Protein Function Loss and the Potential for CFTR Function Restoration in Cystic Fibrosis and Related Disorders
An observational study of Cystic Fibrosis (CF), run by Istituto Giannina Gaslini at 3 sites in Italy.
Trial summary
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 more about this study
- Who is it for?
- Ages 28 days to 65 years
- Conditions the study is for
- Cystic Fibrosis (CF)
- How many people
- 165 participants
- Where
- 3 sitesItaly
- Study dates
- 1 Sep 2024to 31 Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 28 days to 65 years
- All sexes
- Child, Adult, Older adult
Study population: The study plans to analyze 50 patients with cystic fibrosis (CF), 30 patients with CFTR-related disorders (CFTR-RD), 20 children with CFSPID, and 40 patients with idiopathic bronchiectasis. Considering the possibility of cell culture failure due to persistent contamination, enrollment may be increased to up to 60 patients with CF, 35 patients with CFTR-RD, 25 children with CFSPID, and 45 patients with idiopathic bronchiectasis. In addition, 10 healthy adult controls will be enrolled across the participating centers. These healthy controls will serve as controls for the cell culture and epithelial differentiation procedures.
Who may be able to join
- 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 join
- 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.
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy3 sites, 3 recruiting
- Recruiting
Azienda Ospedaliero Universitaria Policlinico G. Rodolico - San Marco
Catania
Salvatore Leonardi, +39 095 479 4573, leonardi@unict.it
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Carlo Castellani, +39 010 56363801, carlocastellani@gaslini.or
- Recruiting
Policlinico di Milano Ospedale Maggiore | Fondazione IRCCS Ca' Granda
Milan
Francesco Bruno Arturo Blasi, +39 02 55033782, francesco.blasi@unimi.it
About this study
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
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.
Read the detailed description
Multicenter observational cross-sectional study
- Conditions
- Cystic Fibrosis (CF)
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with cystic fibrosis | Patients with cystic fibrosis | |
| children with CFSPID | children with CFSPID | |
| patients with idiopathic bronchiectasis | patients with idiopathic bronchiectasis | |
| Patients with CFTR-related disorder | Patients with CFTR-related disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
Molecular and Functional Characterization
Molecular and Functional Characterization of CFTR Orphan Variants and Their Responsiveness to CFTR Modulator Therapies in Patients with Cystic Fibrosis (CF)
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2026
- Study start1 Sep 2024
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cystic Fibrosis (CF)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 165 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Collaborators
- Federico II University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07889973
- Sponsor's protocol ID
- VALPERPRO-CFTR (13952)
- Acronym
- VALPERPRO-CFTR
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 22 Oct 2026
- Results posted
- No