Clinical Research Directory
Browse clinical research sites, groups, and studies.
Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
Sponsor: The Third Affiliated Hospital of Guangzhou Medical University
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.
Official title: Study Protocol Used in Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
1200
Start Date
2021-04-01
Completion Date
2027-06-01
Last Updated
2026-07-09
Healthy Volunteers
No
Locations (1)
The Third Affiliated Hospital of Guangzhou Medical University
Guangzhou, Guangdong, China