Denne side blev automatisk oversat, og nøjagtigheden af oversættelsen er ikke garanteret. Der henvises til engelsk version for en kildetekst.

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

7. juli 2026 opdateret af: 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.

Studieoversigt

Status

Rekruttering

Betingelser

Undersøgelsestype

Observationel

Tilmelding (Anslået)

1200

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

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

Studiesteder

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

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

Barn
Voksen
Ældre voksen

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

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

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Antal grupper/kohorter

Kohorter og interventioner

Gruppe / kohorte
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.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål	Foranstaltningsbeskrivelse	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	Foranstaltningsbeskrivelse	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)

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

The Third Affiliated Hospital of Guangzhou Medical University

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

1. april 2021

Primær færdiggørelse (Anslået)

1. april 2027

Studieafslutning (Anslået)

1. juni 2027

Datoer for studieregistrering

Først indsendt

1. juli 2026

Først indsendt, der opfyldte QC-kriterier

7. juli 2026

Først opslået (Faktiske)

9. juli 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)