Denna sida har översatts automatiskt och översättningens korrekthet kan inte garanteras. Vänligen se engelsk version för en källtext.

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

7 juli 2026 uppdaterad 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.

Studieöversikt

Status

Rekrytering

Betingelser

Studietyp

Observationell

Inskrivning (Beräknad)

1200

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

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

Studieorter

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

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

Barn
Vuxen
Äldre vuxen

Tar emot friska volontärer

Nej

Testmetod

Icke-sannolikhetsprov

Studera befolkning

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.

Beskrivning

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

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

Antal grupper/kohorter

Kohorter och interventioner

Grupp / 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.

Vad mäter studien?

Primära resultatmått

Resultatmått	Åtgärdsbeskrivning	Tidsram
Detection and Familial Segregation of the MT-ND1 m.3700G>A Variant Tidsram: 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)

Sekundära resultatmått

Resultatmått	Åtgärdsbeskrivning	Tidsram
Clinical Classification of Idiopathic Non-obstructive Azoospermia or Cryptozoospermia Tidsram: 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)

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

The Third Affiliated Hospital of Guangzhou Medical University

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Faktisk)

1 april 2021

Primärt slutförande (Beräknad)

1 april 2027

Avslutad studie (Beräknad)

1 juni 2027

Studieregistreringsdatum

Först inskickad

1 juli 2026

Först inskickad som uppfyllde QC-kriterierna

7 juli 2026

Första postat (Faktisk)

9 juli 2026

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)