Informations générales (source: ClinicalTrials.gov)
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
Observational
University Hospital, Lille (Voir sur ClinicalTrials)
février 2016
janvier 2030
29 juin 2024
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Cochin | Contact (sur clinicalTrials) | ||||
| AP-HP - Hôpital Robert Debré | Contact (sur clinicalTrials) | ||||
| HOPITAL FOCH | jeudi 19 juin 2025 | Contact (sur clinicalTrials) | |||
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Hôpital Calmette,CHU - Lille - France | Contact (sur clinicalTrials) | ||||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Aphm Hopital La Timone - Marseille - Marseille - France | Contact (sur clinicalTrials) | ||||
| Camsp Chu Amiens - Amiens - France | Contact (sur clinicalTrials) | ||||
| Chu Montpellier - Montpellier - France | Contact (sur clinicalTrials) | ||||
| Hopital Femme Mere Enfant - Hcl - Bron - Bron - France | Contact (sur clinicalTrials) | ||||
| Hopitaux Universitaires de Strasbour - Strasbourg - France | Contact (sur clinicalTrials) | ||||
Critères
Tous
Inclusion Criteria:
- 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
- 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
- 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