Targeting splicing variants in cystic fibrosis for therapy
Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies
This study is testing a new treatment that uses special blockers to fix genetic problems in people with cystic fibrosis and related disorders.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier) |
| Trial ID | NCT05100823 on ClinicalTrials.gov |
What this trial studies
This study aims to validate the therapeutic efficacy of oligonucleotide blockers that target splicing defects associated with cystic fibrosis and CFTR-related disorders. It will involve patients with various CFTR genotypes and utilize an air-liquid interface model of airway epithelium developed from nasal cells. The study will also collect rectal biopsies to build a biobank of organoids from patients with rare CFTR mutations, specifically from Montpellier, France.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 12 and older with cystic fibrosis or CFTR pathologies carrying specific mutations affecting splicing.
Not a fit: Patients who do not have splicing mutations in the CFTR gene or those who are pregnant or breastfeeding may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to personalized therapies that restore normal CFTR protein production in patients with cystic fibrosis.
How similar studies have performed: While the approach of targeting splicing defects is promising, it remains largely novel and untested in clinical settings for cystic fibrosis.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * The subject must have given their free and informed consent and signed the consent * The subject must be affiliated or beneficiary of a health insurance plan Women and men are included * The patient is at least 12 years old. * The patient has cystic fibrosis or a CFTR pathology and therefore carries two mutations (with at least one mutation affecting splicing) in the CFTR gene. * Patients who volunteer for rectal biopsy collection (only from Montpellier University Hospital) must be at least 18 years old. Exclusion Criteria: * The subject is in a period of exclusion determined by a previous study. * The subject is under judicial protection, under guardianship or under curatorship * The subject does not accept to sign consent * It turns out to be impossible to give informed information to the subject * The subject does not read the French language fluently * The subject is a pregnant or breastfeeding woman * The subject has porphyria, or has hepatic insufficiency, or suffers from epilepsy, or suffers from conduction disorders, or suffers from severe heart failure, has a cons-indication to the use of a local anesthetic spray. Specific non-inclusion criteria for rectal sampling: * the subject has thrombocytopenia * the subject has a bleeding disorder * The patient has severe inflammation of the rectum.
Where this trial is running
Montpellier
- Montpellier University Hospital — Montpellier, France (Recruiting)
Study contacts
- Study coordinator: Anne Bergougnoux, PhD, PharmD
- Email: anne.bergougnoux@inserm.fr
- Phone: +33 411759879
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.