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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06450964
Other study ID # PJ2024-02-22
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
Start date September 1, 2024
Est. completion date December 31, 2027

Study information

Verified date June 2024
Source Anhui Medical University
Contact Dongmei Ji, Dr.
Phone +86-551-6590-8445
Email jidongmei@ahmu.edu.cn
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Description:

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.


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 600
Est. completion date December 31, 2027
Est. primary completion date September 1, 2026
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Clinical diagnosis of mitochondrial DNA diseases Exclusion Criteria: - none

Study Design


Related Conditions & MeSH terms


Intervention

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.

Locations

Country Name City State
n/a

Sponsors (1)

Lead Sponsor Collaborator
Anhui Medical University

Outcome

Type Measure Description Time frame Safety issue
Primary Symptoms of mitochondrial disease The enrolled patients were followed up once a year. Symptoms that the patient has due to mitochondrial DNA mutations are recorded. 3 years
Secondary level of mitochondrial DNA mutation The enrolled patients were followed up once a year. Levels of mitochondrial DNA mutation are measured by next generation sequencing and ddPCR. 3 years
Secondary Tissue-specific distribution of mitochondrial DNA mutation levels The levels of mitochondrial DNA mutations in blood, urine, oral epithelial cells, nails, etc. were measured when the patients were enrolled. When they enrolled
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