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Correction of Nonsense Mutations in Cystic Fibrosis

NCT03670472 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 85

Last updated 2026-05-22

No results posted yet for this study

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.

Conditions

Interventions

OTHER

smear of nasal fossae

1 smear of nasal fossae during a usual or scheduled visit

Sponsors & Collaborators

  • Vaincre la Mucoviscidose

    collaborator OTHER

  • University Hospital, Lille

    lead OTHER

Principal Investigators

  • Anne Prévotat, MD · University Hospital, Lille

Eligibility

Min Age
8 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-02-03
Primary Completion
2030-01-31
Completion
2030-01-31

Countries

  • France

Study Locations

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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 NCT03670472 on ClinicalTrials.gov