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

NCT06045702 | Recruiting

• 1 other identifier: 29BRC22.0273
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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; Sterility, Male; Congenital Bilateral Absence of Vas Deferens

Keywords

Infertility; Primary epididymal cells

Outcome Measures

Primary Outcomes (1)

• 3D organisation of chromatin at the CFTR locus

  Cultur Cell Model

  2 years

Study Arms (2)

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.

Procedure: Epididymal sample

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.

Procedure: Epididymal sample

Interventions

Epididymal sample 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; Group control

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The target population for this study will be adult male patients with all types of male infertility due to genital defects, including epididymal defects due to obstruction or agenesis of the vas deferens, cystic fibrosis or male infertility due to bilateral agenesis of the vas deferens.

You may qualify if:

• 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

You may not qualify if:

• Patients not scheduled for epididymal harvesting surgery
• Patients under legal protection (guardianship, curatorship)
• Refusal to participate

Sponsors & Collaborators

• University Hospital, Brest: lead

Study Sites (1)

Antoine VALERI

Brest, 29200, France

RECRUITING

MeSH Terms

Conditions

Cystic Fibrosis; Congenital bilateral aplasia of vas deferens; Infertility, Male; Infertility

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Male Urogenital Diseases

Study Officials

• Antoine VALERI, MD,PhD

  University Hospital, Brest

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Antoine VALERI, MD,PhD

CONTACT

+33298347170; Antoine.Valeri@univ-brest.fr

Stéphanie MOISAN, PhD

CONTACT

+332 98 01 65 67; stephanie.moisan@chu-brest.fr

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 14, 2023
• First Posted: September 21, 2023
• Study Start: September 11, 2024
• Primary Completion (Estimated): September 9, 2026
• Study Completion (Estimated): September 11, 2026
• Last Updated: March 20, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Data will be available beginning three years and ending fifteen years following the final study report completion.
• Access Criteria: Data access requests will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement.

Locations

FR (1)