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

NCT05100823 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 16

Last updated 2025-09-18

No results posted yet for this study

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.

Conditions

Interventions

PROCEDURE

Nasal cells sampling

Nasal epithelium brushing in intermediate turbinate using a specific curette following a local anesthesia with Xylocaine 5% nebulizer.

PROCEDURE

Rectal biopsy sampling

Forceps Biopsy Procedure (Servidoni et al., 2013) Only for volunteer patients included in the Montpellier center.

Sponsors & Collaborators

  • Foch Hospital, Suresnes, FRANCE

    collaborator UNKNOWN

  • Hôpital Necker-Enfants Malades

    collaborator OTHER

  • Hôpital Cochin

    collaborator OTHER

  • University Hospital, Montpellier

    lead OTHER

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-30
Primary Completion
2025-02-17
Completion
2025-02-17

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05100823 on ClinicalTrials.gov