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Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men (MTND1-INA/C)

2026年7月7日 更新者：The Third Affiliated Hospital of Guangzhou Medical University

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

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.

研究概览

地位

招聘中

条件

研究类型

观察性的

注册 (估计的)

1200

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

学习地点

  • 中国
    • Guangdong
      • Guangzhou、Guangdong、中国、510150
        • 招聘中
        • The Third Affiliated Hospital of Guangzhou Medical University
        • 接触：

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

不

取样方法

非概率样本

研究人群

Participants were selected from men receiving care at the Reproductive Medicine Center of the Third Affiliated Hospital of Guangzhou Medical University. The study population included men with idiopathic non-obstructive azoospermia or cryptozoospermia identified through clinical records and available biospecimens; men with normal spermatogenic function or obstructive azoospermia who served as comparison participants; and, when needed, available first-degree relatives and spouses for family-based genetic analyses. Testicular tissue was obtained only from residual specimens following clinically indicated testicular biopsy, TESA, or micro-TESE procedures.

描述

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.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

队列和干预

团体/队列
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.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant
大体时间：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.
Baseline (single genetic testing assessment at enrollment)

次要结果测量

结果测量
措施说明
大体时间
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia
大体时间：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.
Baseline (single clinical classification based on pre-enrollment clinical records)

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

The Third Affiliated Hospital of Guangzhou Medical University

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2021年4月1日

初级完成 (估计的)

2027年4月1日

研究完成 (估计的)

2027年6月1日

研究注册日期

首次提交

2026年7月1日

首先提交符合 QC 标准的

2026年7月7日

首次发布 (实际的)

2026年7月9日

研究记录更新

最后更新发布 (实际的)

2026年7月9日

上次提交的符合 QC 标准的更新

2026年7月7日

最后验证

2026年7月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • 82471639

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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