Unraveling the Klinefelter's Disease Physiopathology

NCT05997706 | Unknown

• 1 other identifier: 2018/27AVR/196
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Organoid Model to unravel Klinefelter Syndrome infertility Klinefelter Syndrome (KS) is characterized by the presence of an extra chromosome X in male (47,XXY), it is the most frequent genetic cause of azoospermia in adult men. The investigators will isolate and expand spermatogonial cells from KS patients, then using an organoid model investigators will compare the behavior of these Spermatogonia from KS patients when interacting with four combinations of somatic cell types incorporated in the Extra Cellular Matrix hydrogel.

Conditions

Klinefelter Syndrome; Infertility, Male

Keywords

Klinefelter Syndrome; fertility preservation, male

Outcome Measures

Primary Outcomes (1)

• Klinefelter's infertility physiopathology

  Testicular biopsies will be digested using two steps enzymatic protocol. Cell suspensions will be in vitro cultured during 2 months. The following analyses will be performed: cells counts, cells characterisation by immunofluorescence and RTqPCR specific for the cell type, cells karyotypes.

  Up to 60 days with intermediate time analyses at the 5th and 10 th passage of cultures.

Study Arms (1)

Infertile patients

EXPERIMENTAL

Infertile patients going to surgery for fertility preservation or infertility treatment at University Clinic Saint-Luc Brussels

Procedure: Testicular biopsy

Interventions

Testicular biopsy PROCEDURE

Testicular biopsy is a clinical procedure for extraction of testicular tissue

Infertile patients

Eligibility Criteria

• Age: 5 Years - 50 Years
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Klinefelter

You may not qualify if:

• Mosaicism

Sponsors & Collaborators

• Cliniques universitaires Saint-Luc- Université Catholique de Louvain: lead

Study Sites (1)

Cliniques Universitaires St Luc

Brussels, 1200, Belgium

RECRUITING

Related Publications (1)

• Giudice MG, Kanbar M, Poels J, Duquenne A, Wyns C. Long-term culture of human Sertoli cells from adult Klinefelter patients as a first step to develop new tools for unravelling the testicular physiopathology. Hum Reprod. 2024 Nov 1;39(11):2400-2410. doi: 10.1093/humrep/deae201.

  PMID: 39237101 DERIVED

MeSH Terms

Conditions

Klinefelter Syndrome; Infertility, Male

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Genital Diseases, Male; Genital Diseases; Infertility

Study Officials

• Christine Wyns, MD, PhD

  Cliniques Universitaires St Luc

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Christine Wyns, MD, PhD

CONTACT

+3227649501; christine.wyns@uclouvain.be

Maria Grazia Giudice, MD

CONTACT

+32485256903; maria.giudice@uclouvain.be

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2019
• First Posted: August 18, 2023
• Study Start: June 12, 2018
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: August 18, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)