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

7. juli 2026 oppdatert av: 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.

Studieoversikt

Status

Rekruttering

Forhold

Studietype

Observasjonsmessig

Registrering (Antatt)

1200

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Navn: Chen
Telefonnummer: 86-15918822529
E-post: 15918822529@163.com

Studiesteder

Kina
- Guangdong
  - Guangzhou, Guangdong, Kina, 510150
    - Rekruttering
    - The Third Affiliated Hospital of Guangzhou Medical University
    - Ta kontakt med:
      
      Chen Liao
      
      Telefonnummer: 86+15918822529
      
      E-post: 15918822529@163.com

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

Barn
Voksen
Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Antall grupper / kohorter

Kohorter og intervensjoner

Gruppe / Kohort
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.

Hva måler studien?

Primære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant Tidsramme: 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)

Sekundære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia Tidsramme: 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)

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

The Third Affiliated Hospital of Guangzhou Medical University

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

1. april 2021

Primær fullføring (Antatt)

1. april 2027

Studiet fullført (Antatt)

1. juni 2027

Datoer for studieregistrering

Først innsendt

1. juli 2026

Først innsendt som oppfylte QC-kriteriene

7. juli 2026

Først lagt ut (Faktiske)

9. juli 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)