Correction of Nonsense Mutations in Cystic Fibrosis

Plain-language summary

This study examines the correction of nonsense mutations in the CFTR gene in patients with cystic fibrosis, using nasal swab samples. It includes patients aged 8 and older who carry a nonsense mutation on both alleles of the CFTR gene. It is a non-phase study that is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

University Hospital, Lille

Intervention

smear of nasal fossae

Start date

2/3/2016

Estimated completion

1/1/2030

Countries

France

Related genes

Locations

• Amiens, France
• Bron, France
• Lille, France
• Marseille, France
• Montpellier, France
• Paris, France
• Paris, France
• Strasbourg, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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