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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:
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..
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
| |
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 3D organisation of chromatin at the CFTR locus | Cultur Cell Model | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| 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 |
| Name | Affiliation | Role |
|---|---|---|
| Antoine VALERI, MD,PhD | University Hospital, Brest | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Antoine VALERI | Recruiting | Brest | 29200 | France |
All collected data that underlie results in a publication
Data will be available beginning three years and ending fifteen years following the final study report completion.
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.
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| ID | Term |
|---|---|
| D003550 | Cystic Fibrosis |
| C535984 | Congenital bilateral aplasia of vas deferens |
| D007248 | Infertility, Male |
| D007246 | Infertility |
| ID | Term |
|---|---|
| D010182 | Pancreatic Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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|
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |
| D005832 | Genital Diseases, Male |
| D000091662 | Genital Diseases |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |