Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies — ONB-CFTR  

Cystic Fibrosis Clinical Trial

Official title: Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies

Status Recruiting

Clinical Trial Summary

Cystic Fibrosis, an inherited autosomal recessive disease, arises from mutations in the CFTR gene. For intronic mutations affecting splicing events, oligonucleotides therapy has the potential to restore the production of the full length CFTR protein. Recent scientific research has demonstrated the potential of this approach to restore full length mRNA CFTR in in vitro human airway cells. The study aims to validate the therapeutic efficacy of oligonucleotide blockers (ONB) that target splicing defects associated to splicing variants in epithelia obtained from patients with Cystic Fibrosis and CFTR-related disorders.

Clinical Trial Description

The study will include patients with various CFTR genotypes. The assessment of ONB (named ONB-CFTR) will be performed using an air-liquid interface model of airway epithelium, developed from nasal cells of patients, without or with a combination of existing CFTR modulators, depending on the patient' genotype.

This study will also aim to build a local biobank of rectal organoids from patients (only from Montpellier, France) carrying rare CFTR disease-causing variants. ;

Related Conditions & MeSH terms

• Cystic Fibrosis
• Fibrosis

• NCT number: NCT05100823
• Study type: Interventional
• Source: University Hospital, Montpellier
• Contact: Anne Bergougnoux, PhD, PharmD
• Phone: +33 411759879
• Email: anne.bergougnoux@inserm.fr
• Status: Recruiting
• Phase: N/A
• Start date: March 30, 2022
• Completion date: September 30, 2027