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

Sponsor

University Hospital, Brest (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT06045702

Collaborator

(none)

Enrollment

Location

Anticipated Duration (Months)

0.8

Patients Per Site Per Month

Study Details

Study Description

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..

Condition or Disease	Intervention/Treatment	Phase
Cystic Fibrosis Congenital Bilateral Absence of Vas Deferens Sterility, Male	Procedure: Epididymal sample

Study Design

Study Type:

Observational

Anticipated Enrollment :

20 participants

Observational Model:

Other

Time Perspective:

Prospective

Official Title:

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

Anticipated Study Start Date :

Sep 1, 2023

Anticipated Primary Completion Date :

Sep 1, 2025

Anticipated Study Completion Date :

Sep 1, 2025

Arms and Interventions

Arm	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.

Arm

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

Outcome Measures

Primary Outcome Measures

3D organisation of chromatin at the CFTR locus [2 years]
Cultur Cell Model

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

Male

Accepts 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Antoine VALERI	Brest		France	29200

Sponsors and Collaborators

University Hospital, Brest

Investigators

Principal Investigator: Antoine VALERI, MD,PhD, University Hospital, Brest

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University Hospital, Brest

ClinicalTrials.gov Identifier:

NCT06045702

Other Study ID Numbers:

29BRC22.0273

First Posted:

Sep 21, 2023

Last Update Posted:

Sep 25, 2023

Last Verified:

Sep 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Yes

Plan to Share IPD:

Yes

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by University Hospital, Brest

Infertility

Primary epididymal cells

Additional relevant MeSH terms:

Cystic Fibrosis

Infertility

Infertility, Male

Study Results

No Results Posted as of Sep 25, 2023