Technological Development and Clinical Parallel Testing of PGT-G

Genetic Disease Clinical Trial

Official title:

Technological Development and Clinical Parallel Testing of Preimplantation Genetic Testing for Generalization

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05609708
• Other study ID #: SYSKY-2022-245-02
• Status: Recruiting
• Start date: December 12, 2022
• Est. completion date: November 1, 2025

Study information

• Verified date: May 2024
• Source: Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
• Contact: Ping Yuan, PhD
• Phone: 86-20-81332230
• Email: kekeyp1983[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Preimplantation genetic testing (PGT) has three different testings according to the type of genetic disease, which was classified as PGT-M, PGT-SR and PGT-A. If the couple is tested for two different genetic diseases at the same time, it is necessary to customize the probe and adopt different detection methods, which increases the cost and cycle of testing. Advanced expert pre-experimental analysis is required for PGT-M in couples with monogenic disease. If the family members are unavailable, only the polar bodies, sperms or affected embryos can be used to analysis, which not only increases the risk of failure, but also increases the difficulty of detection. At present, BGI has developed a new single-tube complete Long fragment whole genome sequencing (stLFR-WGS) technology, which uses the same molecular tag on the short read sequencing fragments from the same long DNA molecule to achieve accurate short read sequencing to obtain long DNA information. Multiple genetic abnormalities such as gene variation, chromosome aneuploidy and chromosome structure rearrangement can be directly detected in embryos without pre-experiment of family members, so as to achieve universal normalization of the three PGT methods and solve the PGT detection needs of patients with multiple genetic diseases.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 55
• Est. completion date: November 1, 2025
• Est. primary completion date: November 1, 2024
• Gender: All
• Age group: 20 Years to 45 Years

Eligibility

Inclusion Criteria:

1. Patients undergoing PGT cycle;

2. Patients with balanced chromosomal structural rearrangement (reciprocal translocation, Robertsonian translocation, inversion, etc.) by conventional karyotype analysis;

3. Clearly diagnosed monogenic genetic disease, and the related genes and their mutations are judged to be pathogenic or likely pathogenic;

4. Chromosomal abnormalities in recurrent abortion tissues or in PGT-A embryos; The number of blastocysts was >= 1, and the morphological classification was more than 4BC/4CB.

Exclusion Criteria:

1. Belonged to any contraindications of PGT;

2. Failed to embryo biopsy;

3. Failed to embryo WGA failure or abnormal quality control;

4. Failed to embryo sequencing, and the result was unknown.

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn

Locations

Country	Name	City	State
China	Sun Yat-sen Memorial Hospital, Sun Yat-sen University	Guangzhou	Guangdong Provicne

Sponsors (1)

Lead Sponsor	Collaborator
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	diagnosis specificity	specificity	1 day (the time of sequencing)
Primary	diagnosis sensitivity	sensitivity	1 day (the time of sequencing)