Study Protocol Used in Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,200
- 试验地点
- 1
- 主要终点
- Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
INA/C Patients
Men with idiopathic non-obstructive azoospermia or cryptozoospermia who were included in the retrospective clinical and genetic analyses.
Fertile Controls
Fertile men who were included as comparison participants for mitochondrial DNA variant analyses.
Family Members
Affected participants and available relatives who were included for pedigree, segregation, and maternal inheritance analyses of mitochondrial DNA variants.
结局指标
主要结局
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant
时间窗: 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.
次要结局
- Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia(Baseline (single clinical classification based on pre-enrollment clinical records))