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Correction of Nonsense Mutations in Cystic Fibrosis

NCT ID: NCT03670472

Last Updated: 2020-11-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

85 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-02-03

Study Completion Date

2030-01-31

Brief Summary

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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.

Detailed Description

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Conditions

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Cystic Fibrosis

Keywords

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Cystic fibrosis nonsense mutations CFTR gene nasal epithelial cells nonsense mutation readthrough

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Interventions

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smear of nasal fossae

1 smear of nasal fossae during a usual or scheduled visit

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Vaincre la Mucoviscidose

OTHER

Sponsor Role collaborator

University Hospital, Lille

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Anne Prévotat, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

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Camsp Chu Amiens

Amiens, , France

Site Status RECRUITING

Hopital Femme Mere Enfant - Hcl - Bron

Bron, , France

Site Status RECRUITING

Hôpital Calmette,CHU

Lille, , France

Site Status RECRUITING

Aphm Hopital La Timone - Marseille

Marseille, , France

Site Status RECRUITING

Chu Montpellier

Montpellier, , France

Site Status RECRUITING

Cmp Enfants Aphp Robert Debre - Paris

Paris, , France

Site Status RECRUITING

Hu Paris Centre Site Cochin Aphp - Paris 14

Paris, , France

Site Status RECRUITING

Hopitaux Universitaires de Strasbour

Strasbourg, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Anne Prévotat, MD

Role: CONTACT

Phone: 03 20 44 59 48

Email: [email protected]

Fabrice Lejeune, PhD

Role: CONTACT

Email: [email protected]

Other Identifiers

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2013_59

Identifier Type: -

Identifier Source: org_study_id

2014-A01236-41

Identifier Type: OTHER

Identifier Source: secondary_id