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Search / Trial NCT06450964

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

Launched by ANHUI MEDICAL UNIVERSITY · Jun 7, 2024

Trial Information

Current as of June 26, 2025

Enrolling by invitation

Keywords

Mitochondrial Diseases Mitochondrial Dna Mutation Reproductive Cohort Genetic Counseling

ClinConnect Summary

A total of 600 carriers of disease-causing mitochondrial DNA mutations will be selected as the research objects. The basic information, reproductive history, clinical and genetic diagnosis, and clinical symptoms of the carriers will be investigated by questionnaire. 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. Placenta and umbilical cord blood samples of some fetuses wi...

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • Clinical diagnosis of mitochondrial DNA diseases
  • Exclusion Criteria:
  • none

About Anhui Medical University

Anhui Medical University, a leading institution in medical education and research in China, is dedicated to advancing healthcare through innovative clinical trials and rigorous scientific inquiry. With a robust infrastructure and a commitment to ethical research practices, the university fosters collaboration among multidisciplinary teams to explore novel therapeutic interventions and improve patient outcomes. Its focus on translational medicine and public health reflects a deep commitment to addressing pressing health challenges both locally and globally. Through its clinical trial initiatives, Anhui Medical University aims to contribute significantly to the evidence base in medicine and enhance the quality of care provided to diverse populations.

Locations

Hefei, Anhui, China

Patients applied

0 patients applied

Trial Officials

Dongmei Ji, Dr.

Study Chair

The First Affiliated Hospital of Anhui Medical University

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported