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

  • STATUS
    Recruiting
  • End date
    Mar 30, 2025
  • participants needed
    20
  • sponsor
    University Hospital, Montpellier
Updated on 19 April 2022
fibrosis

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.

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.

Details
Condition Cystic Fibrosis, CFTR Gene Mutation
Treatment Nasal cells sampling, Rectal biopsy sampling
Clinical Study IdentifierNCT05100823
SponsorUniversity Hospital, Montpellier
Last Modified on19 April 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

the subject has thrombocytopenia
the subject has a bleeding disorder
The patient has severe inflammation of the rectum

Exclusion Criteria

The subject is in a period of exclusion determined by a previous study
The subject is under judicial protection, under guardianship or under curatorship
The subject does not accept to sign consent
It turns out to be impossible to give informed information to the subject
The subject does not read the French language fluently
The subject is a pregnant or breastfeeding woman
The subject has porphyria, or has hepatic insufficiency, or suffers from epilepsy, or suffers from conduction disorders, or suffers from severe heart failure, has a cons-indication to the use of a local anesthetic spray
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