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De Novo MutationNCT06722313

Optimized PGT-M Strategy for Patients With No Proband

A study testing Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband in people with De Novo Mutation and Preimplantation Genetic Testing, run by ShangHai Ji Ai Genetics & IVF Institute at 1 site in China.

Enrolling by invitation

Enrolling by invitation. The study team selects and invites participants, usually from an existing group of patients.

Sites and contacts
Official record
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Trial summary

The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to avoid the risks of misdiagnosis due to recombination and allele drop out (ADO). Read more about this study

Who is it for?
Any age
What is being tested?
Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband
Could I receive a placebo?
No, everyone receives an active treatment
How many people
5 participants
Where
1 siteChina
Study dates
1 Jan 2023to 31 Dec 2024
Phase
Interventional
Are there results?
Not yet: the study is under way

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 Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • The couples intended for PGT-M without proband were recruited from Shanghai JiAi Genetics and IVF Institute, Obstetrics and Gynecology Hospital of Fudan University between January 2023 and December 2024, and were included in the study if they were expected to have difficulties in the identification of an EAP, typically meeting one of the following criteria:
  • the carrier of the pathogenic variant was without typical clinical symptoms or detected as gonadosomal mosaic;
  • the asymptomatic parents, who had one or more children affected with the same disorder, did not possess the genomic alterations carried by the children as per Sanger sequencing or targeted deep sequencing;
  • female partner with diminished ovarian reserve and therefore a low yield of embryos;
  • the variants are X-linked and the karyotype of the variant carrier is 47, XXX or 47, XXY etc.

Who cannot join

  • (1) Non-PGT-M families; (2) Pedigree of other proband samples can be obtained; (3) Patients seeking for PGT-M who strongly request no haplotype analysis in embryos and only require Sanger testing after being fully informed of the risk.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

China1 site

  • Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University

    Shanghai, Shanghai Municipality, 200011

Other trials in China

About this study

Official title: Optimized PGT-M Strategy Using Gametes or Arrested Embryos From Patients With No Proband

The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to avoid the risks of misdiagnosis due to recombination and allele drop out (ADO). When there is no affected parent or offspring to serve as the proband, embryo carriers identified through direct mutation detection can be preferentially taken as probands for subsequent linkage analysis. In cases where none of the embryos are detected as mutant carrier, single sperm or the second polar body (PB2) can be complementally collected in the work-up of haplotype establishment. Our study aims to develop an optimized strategy of haplotype construction using gametes or arrested embryos for PGT-M in pedigrees with single gene diseases and no proband in the setting of difficult cases, which takes into account the expected number of oocytes acquired and the gonadal mosaicism.

Being tested
Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband
Keywords
preimplantation genetic testing, without proband, De Novo Mutation

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a probandDiagnostic test

    Also called Targeted deep sequencing for mosaicism detection, Ovarian stimulation, embryo culture, biopsy and vitrification, Genetic testing

    1. Targeted deep sequencing for mosaicism detection for patients with suspected gonadal mosaicism, eg. Repeated similar abortion due to the same variant while the couple were tested negative for the variant in the peripheral blood.
    2. Ovarian stimulation, embryo culture, biopsy and vitrification as routinely used in the IVF clinical practice.
    3. Gametes and arrested embryo preservation by the embryo laboratory during embryo culture.
    4. Genetic testing, including multiple displacement amplification for WGA, variant sequencing in WGA products and Infinium Chip protocol for amplified DNA and haplotype analysis
Study groups in NCT06722313
Study groupRoleWhat they receive
PGT-MExperimentalThe couples intended for PGT-M without proband were recruited from Shanghai JiAi Genetics and IVF Institute, Obstetrics and Gynecology Hospital of Fudan University between January 2023 and December 2024, and were included in the study if they were expected to have difficulties in the identification of an embryo as proband.
Receives: Diagnostic Test: Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Consistence of the PGT-M with prenatal diagnosis with amniocentesis

    whether the PGT-M result of the embryos are consistent with the prenatal genetic testing result of amniocentesis

    Measured: 16 weeks of gestation

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted9 Dec 2024
  2. Study start1 Jan 2023
  3. Primary completion31 Dec 2024 (estimated)
  4. Study completion31 Dec 2024 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Diagnosis
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
5 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06722313
Sponsor's protocol ID
JIAI E2023-12
Status last verified
Dec 2024
First submitted
3 Dec 2024
Last updated
9 Dec 2024
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Yes: The de-identified IPD will be published along with the publications of this study

Publications

  • Summerer A, Schafer E, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions. Hum Genet. 2019 Jan;138(1):73-81. doi: 10.1007/s00439-018-1961-5. Epub 2018 Nov 26.

    PubMed 30478644

  • Xiao M, Shi H, Rao J, Xi Y, Zhang S, Wu J, Zhu S, Zhou J, Xu H, Lei C, Sun X. Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis. Front Med (Lausanne). 2022 Jun 17;9:936578. doi: 10.3389/fmed.2022.936578. eCollection 2022.

    PubMed 35783601

  • Wilde AAM, Amin AS. Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy. JACC Clin Electrophysiol. 2018 May;4(5):569-579. doi: 10.1016/j.jacep.2018.03.006. Epub 2018 May 2.

    PubMed 29798782

  • Wang Y, Zhai F, Guan S, Yan Z, Zhu X, Kuo Y, Wang N, Zhi X, Lian Y, Huang J, Jia J, Liu P, Li R, Qiao J, Yan L. A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband. J Assist Reprod Genet. 2021 Sep;38(9):2425-2434. doi: 10.1007/s10815-021-02188-z. Epub 2021 May 3.

    PubMed 33939064

Questions about this trial

What is this clinical trial studying?

A study testing Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband in people with De Novo Mutation and Preimplantation Genetic Testing, run by ShangHai Ji Ai Genetics & IVF Institute 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 5 inclusion and 1 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: enrolling by invitation, as of the sponsor's last update on 9 Dec 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?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Consistence of the PGT-M with prenatal diagnosis with amniocentesis (time frame: 16 weeks of gestation). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06722313, which also lists 4 linked publications.

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 9 Dec 2024.

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