Correcting genetic mutations in cystic fibrosis
Optimization of Correcting Molecules of Nonsense Mutations in Epithelial Cells of the Upper Airways of Patients With Cystic Fibrosis With Nonsense Mutations in the CFTR Gene
This study is testing new treatments that could fix specific genetic mistakes in the CFTR gene to help people with cystic fibrosis breathe better and improve their health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 85 (estimated) |
| Ages | 8 Years and up |
| Sex | All |
| Sponsor | University Hospital, Lille Academic / other |
| Locations | 8 sites (Amiens and 7 other locations) |
| Trial ID | NCT03670472 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include adults and minors aged 8 years and older with cystic fibrosis who carry nonsense mutations on both alleles of the CFTR gene.
Not a fit: Patients with mutations other than nonsense in the CFTR gene will not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could significantly improve treatment options for patients with cystic fibrosis caused by nonsense mutations.
How similar studies have performed: While the approach of correcting nonsense mutations is being explored, this specific combination of strategies is novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Amiens and 7 other locations
- 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)
- Hu Paris Centre Site Cochin Aphp - Paris 14 — Paris, France (Recruiting)
- Hopitaux Universitaires de Strasbour — Strasbourg, 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.