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NCT06722313

Optimized PGT-M Strategy for Patients With No Proband

ENROLLING BY INVITATION NA Last updated 9 December 2024
What this trial tests

NA trial testing Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband in De Novo Mutation in 5 participants. Enrolling by invitation.

Timeline
1 January 2023
Primary endpoint
31 December 2024
31 December 2024

Quick facts

Lead sponsorShangHai Ji Ai Genetics & IVF Institute
PhaseNA
StatusENROLLING BY INVITATION
Study typeINTERVENTIONAL
Allocationna
Designsingle group
Maskingnone
Primary purposediagnostic
Enrollment5
Start date1 January 2023
Primary completion31 December 2024
Estimated completion31 December 2024
Sites1 location across China

Drugs / interventions tested

Conditions studied

Sponsor

ShangHai Ji Ai Genetics & IVF Institute

Who can join

Eligibility, any sex, with De Novo Mutation or Preimplantation Genetic Testing. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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