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

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..

Study Overview

• Status: Recruiting
• Conditions: Cystic Fibrosis; Congenital Bilateral Absence of Vas Deferens; Sterility, Male
• Intervention / Treatment: Procedure: Epididymal sample

• Study Type: Observational
• Enrollment (Estimated): 20

Contacts and Locations

• Study Contact: Name: Antoine VALERI, MD,PhD; Phone Number: +33298347170; Email: Antoine.Valeri@univ-brest.fr
• Study Contact Backup: Name: Stéphanie MOISAN, PhD; Phone Number: +332 98 01 65 67; Email: stephanie.moisan@chu-brest.fr

Study Locations

• France
  • Brest, France, 29200
    • Recruiting
    • Antoine VALERI
    • Contact: Antoine VALERI, MD,PhD; Phone Number: +33298347170; Email: Antoine.Valeri@univ-brest.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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; 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.	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 of the CHU Brest, in the event of future procreation by in vitro fertilisation.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
3D organisation of chromatin at the CFTR locus	Cultur Cell Model	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Demonstration of interactions between genomic region	Chromatin conformation analysis, using the Chromosome Conformation Capture technique (3C) and its derivatives (4C, 5C)	2 years
Identification of transcription factors	Chromatin immunoprecipitation (Chromatin Immunoprecipitation ChIP, or Cut&Run) will be used to analyze the binding of regulatory proteins.	2 years

Collaborators and Investigators

• Sponsor: University Hospital, Brest
• Investigators: Principal Investigator: Antoine VALERI, MD,PhD, University Hospital, Brest

Study record dates

Study Major Dates

• Study Start (Actual): September 11, 2024
• Primary Completion (Estimated): September 9, 2026
• Study Completion (Estimated): September 11, 2026

Study Registration Dates

• First Submitted: September 14, 2023
• First Submitted That Met QC Criteria: September 14, 2023
• First Posted (Actual): September 21, 2023

Study Record Updates

• Last Update Posted (Actual): March 20, 2026
• Last Update Submitted That Met QC Criteria: March 18, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: Infertility; Primary epididymal cells
• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Genital Diseases, Male; Male Urogenital Diseases; Genetic Diseases, Inborn; Respiratory Tract Diseases; Digestive System Diseases; Lung Diseases; Infant, Newborn, Diseases; Pancreatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infertility; Cystic Fibrosis; Infertility, Male; Congenital bilateral aplasia of vas deferens
• Other Study ID Numbers: 29BRC22.0273

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All collected data that underlie results in a publication
• IPD Sharing Time Frame: Data will be available beginning three years and ending fifteen years following the final study report completion.
• IPD Sharing 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.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No