Correcting genetic mutations in cystic fibrosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on addressing nonsense mutations in the CFTR gene, which lead to cystic fibrosis. It employs a combination of strategies to inhibit nonsense-mediated mRNA decay and enhance readthrough of these mutations. The researchers aim to identify effective molecules that can correct a variety of nonsense mutations through laboratory testing on cell lines and murine models. The ultimate goal is to determine the efficacy of these molecules in correcting the mutations in patients with cystic fibrosis.

Why it matters

Who can join: the full rules

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

Where it's running

• Camsp Chu Amiens
  Amiens, France Recruiting
• Hopital Femme Mere Enfant - Hcl - Bron
  Bron, France Recruiting
• Hôpital Calmette,CHU
  Lille, France Recruiting
• Aphm Hopital La Timone - Marseille
  Marseille, France Recruiting
• Chu Montpellier
  Montpellier, France Recruiting
• Cmp Enfants Aphp Robert Debre - Paris
  Paris, France Recruiting

Study contacts

• Principal investigator: Anne Prévotat, MD — University Hospital, Lille
• Study coordinator: Anne Prévotat, MD
• Email: anne.prevotat@chru-lille.fr
• Phone: 03 20 44 59 48

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.