NCT05936749

Brief Summary

This monocentric retrospective observational study aims to evaluate the efficacy of pre-implantation genetic testing for monogenic diseases (PGT-M). The effectiveness will be assessed in terms of live birth rate (LBR), cumulative live birth rate (CLBR) per couple, and abortion rate (AR). Considering how many cycles the participants have undergone to achieve a viable blastocyst. The secondary objective is to evaluate the incidence of aneuploidy in unaffected embryos, in order to understand the need for pre-implantation genetic testing for aneuploidy (PGT-A)in addition to PGT-M.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
76

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2016

Longer than P75 for all trials

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 2, 2016

Completed
6.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 12, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 12, 2022

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

June 14, 2023

Completed
26 days until next milestone

First Posted

Study publicly available on registry

July 10, 2023

Completed
Last Updated

July 10, 2023

Status Verified

June 1, 2023

Enrollment Period

6.9 years

First QC Date

June 14, 2023

Last Update Submit

June 29, 2023

Conditions

Genetic DiseaseAneuploidy

Outcome Measures

Primary Outcomes (3)

  • Live birth rate (LBR)

    LBR will be measured as a percentage

    7 years of inclusion

  • Cumulative live birth rate (CLBR) per couple

    CLBR per couple will be measured as a percentage

    7 years of inclusion

  • Abortion rate (AR)

    AR will be measured as a percentage

    7 years of inclusion

Secondary Outcomes (1)

  • Aneuploidy

    7 years of inclusion

Interventions

Pre-implantation genetic testingGENETIC

Eligibility Criteria

Age34 Years - 42 Years
Sexfemale
Age GroupsAdult (18-64)
Sampling MethodProbability Sample
Study Population

All 76 participants that underwent PGTM testing in the Fertility Center starting from the beginning of 2016 all through the end of 2022, will be included in the study.

You may qualify if:

  • Patients fertile or infertile that have undergone preimplantation genetic testing for monogenic diseases (PGTM).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Genetic Diseases, InbornAneuploidy

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome AberrationsPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 14, 2023

First Posted

July 10, 2023

Study Start

January 2, 2016

Primary Completion

December 12, 2022

Study Completion

December 12, 2022

Last Updated

July 10, 2023

Record last verified: 2023-06