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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07691827

Acronym

MTND1-INA/C

Enrollment

1200

Registered

2026-07-09

Start date

2021-04-01

Completion date

2027-06-01

Last updated

2026-07-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Azoospermia, Nonobstructive, Cryptozoospermia

Keywords

Male Infertility, MT-ND1, Maternal Inheritance

Brief 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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant	Baseline (single genetic testing assessment at enrollment)	Detection of the MT-ND1 m.3700G\>A mitochondrial DNA variant by sequencing in available biological samples, with assessment of its distribution and maternal segregation among affected male family members, unaffected relatives, unrelated patients with idiopathic non-obstructive azoospermia or cryptozoospermia, and fertile controls.

Secondary

Measure	Time frame	Description
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia	Baseline (single clinical classification based on pre-enrollment clinical records)	Affected participants were classified as having idiopathic non-obstructive azoospermia or cryptozoospermia according to the clinical diagnosis recorded after routine semen analyses and standard clinical evaluation.

Countries

China

Contacts

CONTACTChen

15918822529@163.com86-15918822529

Outcome results