Testing molecules to correct gene faults in cystic fibrosis airway cells
Studies nasal cells from people with cystic fibrosis to test gene-correcting molecules.
Plain-language title generated from the registry record
Registry title: Correction of Nonsense Mutations in Cystic Fibrosis
Key facts
- Where
- Amiens, Bron, Lille, Marseille, Montpellier, Paris, and Strasbourg, FranceSee the 8 sites
Where in France
- Camsp Chu AmiensAmiens, FranceTaking people
- Hopital Femme Mere Enfant - Hcl - BronBron, FranceTaking people
- Hôpital Calmette, CHULille, FranceTaking people
- Aphm Hopital La Timone - MarseilleMarseille, FranceTaking people
- CHU MontpellierMontpellier, FranceTaking people
- Cmp Enfants Aphp Robert Debre - ParisParis, FranceTaking people
- Hu Paris Centre Site Cochin Aphp - Paris 14Paris, FranceTaking people
- Hopitaux Universitaires de StrasbourStrasbourg, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University Hospital, Lille
- Trial code
- NCT03670472
- Record updated
- 22 May 2026
- Original description
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13]. There are currently 3 main strategies at least for correcting nonsense mutations: exon skipping, inhibition of NMD and nonsense mutation readthrough.Read full original descriptionShow less
Optimization of Correcting Molecules of Nonsense Mutations in Epithelial Cells of the Upper Airways of Patients With Cystic Fibrosis With Nonsense Mutations in the CFTR Gene
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13]. There are currently 3 main strategies at least for correcting nonsense mutations: exon skipping, inhibition of NMD and nonsense mutation readthrough.
In the laboratory, we developed a strategy for correcting nonsense mutations combining inhibition of NMD and activation of translecture. For this purpose, we have constructed screening systems to identify NMD-inhibiting and/or readthrough enhancers. The molecules thus identified are then tested on cell lines and in murine models carrying a nonsense mutation.
One of our goals is to select a set of molecules that can correct effectively nonsense mutations. For this we have to test these molecules on a great diversity of nonsense mutations.
This work will:
* determine if we can correct all the nonsense mutations tested with at least one of our molecules * determine what is common within a group of mutations corrected by a given molecule * be able to assign the parameters that make one mutation is corrected by one molecule and not or little by another.
This study will therefore improve our theoretical knowledge on the recognition of premature stop codons but also to propose therapeutic approaches for the correction of nonsense mutations of the CFTR gene in cystic fibrosis in a targeted way for a patient.
Inclusion: Male / female adults and minors aged 8 years and over; Patients with cystic fibrosis and carry a nonsense mutation on the 2 alleles of the gene coding for the CFTR channel; Patients whose genotype of patients concerning the CFTR gene is known; Patients with social security; Major patients who have given their consent; Minor patients with parental authorization.
Exclusion: Patients who have a mutation other than nonsense in the CFTR gene; Patients whose CFTR gene was not sequenced on the 2 alleles; Patients not wishing to participate in this study or persons not giving or not able to give consent; Pregnant or lactating women; Patients under curatorship or guardianship.