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.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Mitochondrial Diseases Metabolic Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

First Affiliated Hospital of Anhui Medical University

Hefei, Anhui, 230022, China

About this study

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 will be collected after delivery, and the mitochondrial DNA mutation heterogeneity level will be determined. Multiple Logistic regression, Sewell-Wright equation, Kimura equation, binomial distribution model, and machine learning model will be used to establish a prediction model of the incidence probability of mitochondrial diseases and predict the onset threshold of common mitochondrial DNA mutations after standardizing. The distribution model of mitochondrial mutation load in offspring will be established to predict the maternal genetic risk of mitochondrial DNA mutation. A prediction model for egg retrieval will be established to estimate the minimum number of eggs taken by preimplantation genetic testing in mitochondrial mutation carriers. Finally, an online prediction platform for mitochondrial genetic disease genetic counseling will be established to provide standardized standards for mitochondrial disease genetic counseling and PGT.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Clinical diagnosis of mitochondrial DNA diseases

Exclusion criteria

none

Treatment and study plan

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

Other

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.

Primary outcomes

Symptoms of mitochondrial disease

Time frame: 3 years

The enrolled patients were followed up once a year. Symptoms that the patient has due to mitochondrial DNA mutations are recorded.

Secondary outcomes

level of mitochondrial DNA mutation

Time frame: 3 years

The enrolled patients were followed up once a year. Levels of mitochondrial DNA mutation are measured by next generation sequencing and ddPCR.
Tissue-specific distribution of mitochondrial DNA mutation levels

Time frame: When they enrolled

The levels of mitochondrial DNA mutations in blood, urine, oral epithelial cells, nails, etc. were measured when the patients were enrolled.

Sponsors and collaborators

Lead sponsor

Anhui Medical University

Other

Registry information

Important dates

Study start: 2024
Primary completion: 2026
Study completion: 2027
First posted: Jun 10, 2024
Registry last updated: Oct 28, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Enrolling by Invitation