Establishment of a Primary Epididymal Cell Model From Epididymal Samples to Study CFTR Gene Regulation

NCT ID: NCT06045702

Last Updated: 2023-09-25

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 20 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-09-30
• Study Completion Date: 2025-09-30

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..

Conditions

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

Group control

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.

Epididymal sample

Intervention Type: PROCEDURE

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.

CFTR-associated pathology

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.

Epididymal sample

Intervention Type: PROCEDURE

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.

Interventions

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 of the CHU Brest, in the event of future procreation by in vitro fertilisation.

Intervention Type: PROCEDURE

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Brest

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Antoine VALERI, MD,PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Brest

Locations

Antoine VALERI

Brest, , France

Countries

France

Central Contacts

Antoine VALERI, MD,PhD

Role: CONTACT

Antoine.Valeri@univ-brest.fr

+33298347170

Stéphanie MOISAN, PhD

Role: CONTACT

stephanie.moisan@chu-brest.fr

+332 98 01 65 67

Facility Contacts

Antoine VALERI, MD,PhD

Role: primary

Antoine.Valeri@univ-brest.fr

+33298347170

Other Identifiers

29BRC22.0273

Identifier Type: -

Identifier Source: org_study_id