Clinical Research Directory

A Precision Medicine Approach to Assess Protein Function Loss and the Potential for CFTR Function Restoration in Cystic Fibrosis and Related Disorders

Sponsor: Istituto Giannina Gaslini

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. 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.

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

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