Trials / Terminated
TerminatedNCT05100823
Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies
- Status
- Terminated
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 16 (actual)
- Sponsor
- University Hospital, Montpellier · Academic / Other
- Sex
- All
- Age
- 12 Years
- Healthy volunteers
- Not accepted
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.
Detailed 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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| 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. |
Timeline
- Start date
- 2022-03-30
- Primary completion
- 2025-02-17
- Completion
- 2025-02-17
- First posted
- 2021-10-29
- Last updated
- 2025-09-18
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT05100823. Inclusion in this directory is not an endorsement.