Congenital Bilateral Absence of Vas Deferens, Cystic Fibrosis, Sterility, Male
Conditions
Keywords
Infertility, Primary epididymal cells
Brief summary
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
PROCEDUREEpididymal 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 of the CHU Brest, in the event of future procreation by in vitro fertilisation.
Sponsors
University Hospital, Brest
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 3D organisation of chromatin at the CFTR locus | 2 years | Cultur Cell Model |
Countries
France
Contacts
CONTACTAntoine VALERI, MD,PhD
CONTACTStéphanie MOISAN, PhD
PRINCIPAL_INVESTIGATORAntoine VALERI, MD,PhD
University Hospital, Brest
Outcome results
None listed