Genetic DiseaseNCT05609708
Technological Development and Clinical Parallel Testing of PGT-G
An observational study of Genetic Disease, run by Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University at 1 site in China.
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… Read more about this study
- Who is it for?
- Ages 20 to 45 years
- Conditions the study is for
- Genetic Disease
- How many people
- 55 participants
- Where
- 1 siteChina
- Study dates
- 12 Dec 2022to 1 Nov 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 45 years
- All sexes
- Adult
Study population: Patients with genetic diseases undergoing PGT cycle
Who may be able to join
- Patients undergoing PGT cycle;
- Patients with balanced chromosomal structural rearrangement (reciprocal translocation, Robertsonian translocation, inversion, etc.) by conventional karyotype analysis;
- Clearly diagnosed monogenic genetic disease, and the related genes and their mutations are judged to be pathogenic or likely pathogenic;
- 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.
Who cannot join
- Belonged to any contraindications of PGT;
- Failed to embryo biopsy;
- Failed to embryo WGA failure or abnormal quality control;
- Failed to embryo sequencing, and the result was unknown.
Trial locations and contacts
1 site in 1 country.
Liushan Ou contact
China1 site, 1 recruiting
- Recruiting
Sun Yat-sen Memorial Hospital, Sun Yat-sen University
Guangzhou, Guangdong Provicne, 510120
Ping Yuan, PhD, 86-20-81332230, kekeyp1983@163.com
About this study
Official title: Technological Development and Clinical Parallel Testing of Preimplantation Genetic Testing for Generalization
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.
- Conditions
- Genetic Disease
- Keywords
- PGT, stLFR-WGS
- Medical subject headings
- Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
diagnosis specificity
specificity
Measured: 1 day (the time of sequencing)
diagnosis sensitivity
sensitivity
Measured: 1 day (the time of sequencing)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Nov 2022
- Study start12 Dec 2022
- Primary completion1 Nov 2024 (estimated)
- Study completion1 Nov 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 55 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05609708
- Sponsor's protocol ID
- SYSKY-2022-245-02
- Status last verified
- May 2024
- First submitted
- 3 Nov 2022
- Last updated
- 10 May 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Technological Development and Clinical Parallel Testing of Preimplantation Genetic Testing for Generalization
- ClinicalTrials.gov ID
- NCT05609708
- Acronym / sponsor ID
- SYSKY-2022-245-02
- Conditions
- Genetic Disease
- Keywords
- PGT, stLFR-WGS
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 55 participants (estimated)
- Lead sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen UniversityUniversity, hospital or other
- Study start
- 12 Dec 2022 (actual)
- Primary completion
- 1 Nov 2024 (estimated)
- Study completion
- 1 Nov 2025 (estimated)
- First posted
- 8 Nov 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 20 to 45 years
- Sex
- All
- Age groups
- Adult
- Study population
- Patients with genetic diseases undergoing PGT cycle
Key inclusion criteria (4 listed)
- Patients undergoing PGT cycle;
- Patients with balanced chromosomal structural rearrangement (reciprocal translocation, Robertsonian translocation, inversion, etc.) by conventional karyotype analysis;
- Clearly diagnosed monogenic genetic disease, and the related genes and their mutations are judged to be pathogenic or likely pathogenic;
- 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.
Key exclusion criteria (4 listed)
- Belonged to any contraindications of PGT;
- Failed to embryo biopsy;
- Failed to embryo WGA failure or abnormal quality control;
- Failed to embryo sequencing, and the result was unknown.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
diagnosis specificity
Time frame: 1 day (the time of sequencing)
specificity
diagnosis sensitivity
Time frame: 1 day (the time of sequencing)
sensitivity
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 May 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Liushan Ou contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease, run by Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 10 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ping Yuan, PhD (86-20-81332230, kekeyp1983@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
diagnosis specificity (time frame: 1 day (the time of sequencing)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 May 2024.