Azoospermia, NonobstructiveMTND1-INA/CNCT07691827
Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
An observational study of Azoospermia, Nonobstructive and Cryptozoospermia, run by The Third Affiliated Hospital of Guangzhou Medical University at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Azoospermia, Nonobstructive, Cryptozoospermia
- How many people
- 1,200 participants
- Where
- 1 siteChina
- Study dates
- 1 Apr 2021to 1 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
The Third Affiliated Hospital of Guangzhou Medical University
Guangzhou, Guangdong, 510150
Chen Liao, 86+15918822529, 15918822529@163.com
About this study
Official title: 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.
- Conditions
- Azoospermia, Nonobstructive, Cryptozoospermia
- Keywords
- Male Infertility, MT-ND1, Maternal Inheritance
- Medical subject headings
- Azoospermia, Nonobstructive, Oligospermia, Infertility, Male
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant
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.
Measured: Baseline (single genetic testing assessment at enrollment)
Secondary outcomes (1)
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia
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.
Measured: Baseline (single clinical classification based on pre-enrollment clinical records)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2026
- Study start1 Apr 2021
- Primary completion1 Apr 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Azoospermia, NonobstructiveStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 1,200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Third Affiliated Hospital of Guangzhou Medical University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07691827
- Sponsor's protocol ID
- 82471639
- Acronym
- MTND1-INA/C
- Status last verified
- Jul 2026
- First submitted
- 1 Jul 2026
- Last updated
- 9 Jul 2026
- Results posted
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study Protocol Used in Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men
- ClinicalTrials.gov ID
- NCT07691827
- Acronym / sponsor ID
- MTND1-INA/C / 82471639
- Conditions
- Azoospermia, Nonobstructive, Cryptozoospermia
- Keywords
- Male Infertility, MT-ND1, Maternal Inheritance
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,200 participants (estimated)
- Lead sponsor
- The Third Affiliated Hospital of Guangzhou Medical UniversityUniversity, hospital or other
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- 1 Apr 2027 (estimated)
- Study completion
- 1 Jun 2027 (estimated)
- First posted
- 9 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant
Time frame: 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.
1 secondary outcome
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia
Time frame: Baseline (single clinical classification based on pre-enrollment clinical records)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Azoospermia, Nonobstructive and Cryptozoospermia, run by The Third Affiliated Hospital of Guangzhou Medical University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Chen (86-15918822529, 15918822529@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant (time frame: Baseline (single genetic testing assessment at enrollment)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jul 2026.