Establishment of a Primary Epididymal Cell Model From Epididymal Samples to Study CFTR Gene Regulation (CFTR-EP)

Regional University Hospital Center (CHRU)

Status: Not yet enrolling

Conditions: Cystic Fibrosis; Sterility, Male; Congenital Bilateral Absence of Vas Deferens

Treatments: Procedure: Epididymal sample

Study type: Observational

Funder types: Other

Identifiers

NCT06045702

29BRC22.0273

Details and patient eligibility

About

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..

Enrollment: 20 estimated patients

Sex: Male

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

20 participants in 2 patient groups

Group control

Description:

Adult patients with no genetic pathology other than male infertility of any type leading to an inability to procreate without medical assistance, and requiring surgery to recover spermatozoa for possible in vitro fertilization.

Treatment:

Procedure: Epididymal sample

CFTR-associated pathology

Description:

Major patients with cystic fibrosis or male infertility due to agenesis of the vas deferens. These patients will be included in the study because they have the prospect of procreation by in vitro fertilisation requiring surgery to recover spermatozoa.

Treatment:

Procedure: Epididymal sample