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Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases

NCT06450964 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2024-10-28

No results posted yet for this study

Summary

The goal of this observational study is to provide a reference for clinicians to conduct genetic counseling and carry out preimplantation genetic testing of mitochondrial patients. The main questions it aims to answer are:

* The relationship between mitochondrial mutation load and clinical symptom
* The symptomatic threshold of common mitochondrial DNA mutations
* The distribution of mitochondrial mutation load in offspring and genetic rule of mitochondrial DNA mutation
* The minimum number of eggs taken by preimplantation genetic testing in mitochondrial mutation carriers Biological samples such as blood, urine, oral epithelial cells, nails, some granulosa cells, trophoderm cells, embryo culture fluid, embryo biopsy fluid, and embryo trophoblast cells of the participants will be collected and the mutation loads of them will be measured. The clinical symptoms and mutation load of the participants will be followed up once a year.

Conditions

  • Mitochondrial Diseases

Interventions

OTHER

Biological samples such as blood, urine, oral epithelial cells and nails of carriers were collected, and the mitochondrial DNA mutation heterogeneity level was determined.

Biological samples such as blood, urine, oral epithelial cells and nails of carriers were collected, and some granulosa cells, trophoderm cells, embryo culture fluid, embryo biopsy fluid, and embryo trophoblast cells were collected. Placenta and umbilical cord blood samples of some fetuses were collected after delivery, and the mitochondrial DNA mutation heterogeneity level was determined.

Sponsors & Collaborators

  • Anhui Medical University

    lead OTHER

Principal Investigators

  • Dongmei Ji, Dr. · The First Affiliated Hospital of Anhui Medical University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-09-01
Primary Completion
2026-09-01
Completion
2027-12-31

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06450964 on ClinicalTrials.gov