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

NCT06450964 | Enrolling By Invitation DMC

• 1 other identifier: PJ2024-02-22
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

mitochondrial diseases; mitochondrial DNA mutation; reproductive cohort; genetic counseling

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• level of mitochondrial DNA mutation

  3 years

• Tissue-specific distribution of mitochondrial DNA mutation levels

  When they enrolled

Interventions

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

mtDNA mutation carriers from The First Affiliated Hospital of Anhui Medical University

You may qualify if:

• Clinical diagnosis of mitochondrial DNA diseases

You may not qualify if:

• none

Sponsors & Collaborators

• Anhui Medical University: lead

Study Sites (1)

First Affiliated Hospital of Anhui Medical University

Hefei, Anhui, 230022, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood, urine, oral epithelial cells, fingernail, trophectoderm cells, embryo culture medium, amniotic fluid, placenta, granulosa cell

MeSH Terms

Conditions

Mitochondrial Diseases

Interventions

Blood Specimen Collection; Urination

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Urinary Tract Physiological Phenomena; Reproductive and Urinary Physiological Phenomena

Study Officials

• Dongmei Ji, Dr.

  The First Affiliated Hospital of Anhui Medical University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 3, 2024
• First Posted: June 10, 2024
• Study Start: September 1, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): December 31, 2027
• Last Updated: October 28, 2024

Record last verified: 2024-06

Locations

CN (1)