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Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men

NCT07691827 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1200

Last updated 2026-07-09

No results posted yet for this study

Summary

Idiopathic non-obstructive azoospermia and cryptozoospermia are severe forms of male infertility in which sperm production is absent or extremely low and the cause is often unknown. This retrospective observational study examined whether mitochondrial DNA variants, particularly the MT-ND1 m.3700G\>A variant, are associated with impaired sperm production in Chinese men.

Existing clinical records and available biospecimens from affected men, eligible family members, and fertile controls were analyzed to assess familial inheritance patterns, the frequency of the variant, and its association with infertility phenotypes. No study-related treatment or intervention was provided to human participants.

Conditions

  • Azoospermia, Nonobstructive
  • Cryptozoospermia

Sponsors & Collaborators

  • The Third Affiliated Hospital of Guangzhou Medical University

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-04-01
Primary Completion
2027-04-01
Completion
2027-06-01

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07691827 on ClinicalTrials.gov