Maternal MT-ND1 Mutation and Male Infertility
Official title: Study Protocol Used in Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
Run by The Third Affiliated Hospital of Guangzhou Medical University · NCT07691827 · Data updated 2026-11-12
Researchers look at whether a mitochondrial MT-ND1 variant inherited from mothers is linked to very low or absent sperm production in men with idiopathic infertility.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1200 (estimated) |
| Sponsor | The Third Affiliated Hospital of Guangzhou Medical University Academic / other |
| Drugs / interventions | chemotherapy |
| Locations | 1 site (Guangzhou, Guangdong) |
| Status | Recruiting |
| Started | April 1, 2021 |
| Main results expected | April 1, 2027 |
| Study ends | June 1, 2027 |
| Registry record updated | July 9, 2026 |
| Trial ID | NCT07691827 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are men with idiopathic non-obstructive azoospermia or cryptozoospermia who have undergone a clinically indicated testicular procedure and have accessible residual specimens, plus their family members for segregation analysis.
✕Probably not a fit
Individuals with infertility not related to MT-ND1 variants or without available hereditary samples may not benefit from these findings.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is an observational analysis using existing medical records and stored samples to explore familial inheritance of a MT-ND1 mutation and its potential connection to impaired spermatogenesis in Chinese men. The study examines the frequency of the MT-ND1 m.3700G>A variant and its association with azoospermia and cryptozoospermia by comparing affected men, their relatives, and fertile controls. No interventions or treatments are performed as part of the study; data are retrospective and rely on previously collected biospecimens. The goal is to understand whether maternal inheritance of this mitochondrial variant contributes to infertility phenotypes and to characterize inheritance patterns across families.
Why it matters
Potential benefit: If a link is confirmed, it may improve understanding of certain forms of male infertility and guide genetic counseling and familial risk assessment.
How similar studies have gone: Prior research has explored mitochondrial DNA involvement in male infertility, with some associations reported, but this specific maternal MT-ND1 variant and family-based analysis is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Men with idiopathic non-obstructive azoospermia or cryptozoospermia. * Male patients undergoing a clinically indicated testicular biopsy, testicular sperm aspiration (TESA), microdissection testicular sperm extraction (micro-TESE), or a related clinical procedure, when residual clinical specimens are available. * Comparison participants with normal spermatogenesis, including men with obstructive azoospermia and men undergoing sperm retrieval or testicular tissue evaluation for clinical reasons. * Selected relatives and spouses of enrolled patients, when needed for genetic segregation analysis and determination of variant origin. Exclusion Criteria: * For the idiopathic non-obstructive azoospermia or cryptozoospermia cohort, azoospermia with an established alternative cause, including chromosomal abnormalities, Y-chromosome microdeletions, testicular tumors, severe trauma, prior radiotherapy or chemotherapy, or confirmed infection. * Incomplete clinical data or inability to obtain informed consent. * Biospecimens that do not meet quality requirements for the planned analyses.
Where it's running
-
The Third Affiliated Hospital of Guangzhou Medical University
Guangzhou, Guangdong, China Recruiting
Study contacts
- Study coordinator: Chen
- Email: 15918822529@163.com
- Phone: 86-15918822529
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.