Establishment of a Primary Epididymal Cell Model From Epididymal Samples to Study CFTR Gene Regulation
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Epididymal sample.
- Who it may be relevant to
- Registry conditions: Cystic Fibrosis, Congenital Bilateral Absence of Vas Deferens, Sterility, Male. Basic parameters: from 18 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
The aim of this observational study is to better understand the role and involvement of the regulatory elements of the CFTR gene, with the aim of better describing the 3D organisation of chromatin at the CFTR locus in epididymal cells in patients with male infertility of any kind, or with cystic fibrosis or bilateral agenesis of the vas deferens, requiring scheduled surgery. The main questions it aims to answer are: * to better characterise this 3D organisation of the CFTR locus, the study of regulatory elements in primary epididymal cells is the most relevant and realistic model. * to gain a better understanding of the regulation of the CFTR gene in epididymal cells in order to gain a better understanding of the pathology of male infertility caused by bilateral agenesis of the vas deferens, a symptom and also a borderline form of cystic fibrosis. Participants will Epididymal samples will be taken by a urologist for the AMP department during the planned surgery. The rest of the samples taken will be recovered for research purposes, with the aim of recovering the epididymal cells contained in the sample. This is in no way an additional procedure and will have no impact on the patient's health..
Interventions
- Procedure Epididymal sample
During a planned surgical procedure carried out by the Urology and Medically Assisted Reproduction (MAP) department at Brest University Hospital in the patients included in the study, a remnant epididymal sample (between ½ and ¼ of a cc) will be kept for research purposes. These patients suffer from male infertility, leading them to undergo surgery in order to check for the presence of spermatozoa in the epididymis, and to recover spermatozoa which will be frozen and flaked in the AMP department
Primary outcome measures
- 3D organisation of chromatin at the CFTR locus [Time frame: 2 years]
Eligibility criteria
Inclusion criteria
- Male patients over 18 years of age
- Patients, without genetic pathology, scheduled for epididymal sampling surgery
- Patients with cystic fibrosis or bilateral vas deferens agenesis, scheduled for epididymal sampling surgery.
- Signature of a consent form
Exclusion criteria
- Patients not scheduled for epididymal harvesting surgery
- Patients under legal protection (guardianship, curatorship)
- Refusal to participate
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Other
Study locations
France · 1 center
- Antoine VALERI — Brest
Identifiers
NCT: NCT06045702 · 29BRC22.0273