Correction of Nonsense Mutations in Cystic Fibrosis

  • STATUS
    Recruiting
  • End date
    Jan 27, 2030
  • participants needed
    85
  • sponsor
    University Hospital, Lille
Updated on 14 February 2022
fibrosis
cftr gene
nonsense mutation

Summary

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.

Details
Condition Cystic Fibrosis
Treatment smear of nasal fossae
Clinical Study IdentifierNCT03670472
SponsorUniversity Hospital, Lille
Last Modified on14 February 2022

Eligibility

Yes No Not Sure

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

Exclusion Criteria

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
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