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

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.

NCT Number	NCT06450964
Lead Sponsor	Anhui Medical University
Conditions	Mitochondrial Diseases
Enrollment	600 participants
Start Date	2024-09-01
Primary Completion	2026-09-01 (estimated)
Study Completion	2027-12-31 (estimated)
Updated on ClinicalTrials.gov	2024-10-28