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CompletedNCT05936749Updated Jul 10, 2023

Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience

An observational study in Genetic Disease and Aneuploidy, sponsored by Istituto Clinico Humanitas. Completed. Open to female participants aged 34 Years to 42 Years. Per ClinicalTrials.gov, last updated 2023-07-10.

Sponsored by Istituto Clinico Humanitas · Observational

Study type
Observational
Model
Cohort
Time perspective
Retrospective
Enrollment
76
Ages
34 Years to 42 Years
Sex
Female
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Study 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.

02

Conditions studied

  • Genetic Disease
  • Aneuploidy
03

Who can participate

Ages eligible
34 Years to 42 Years
Sexes eligible
Female
Sampling method
Probability 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.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • No exclusion criteria will be taken into consideration.
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Study design

Observational model
Cohort
Time perspective
Retrospective
Enrollment
76 participants (actual)
Patient registry
No

Interventions

  • GeneticPre-implantation genetic testing
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What researchers measure

Primary outcomes

  1. Live birth rate (LBR)

    LBR will be measured as a percentage

    Time frame: 7 years of inclusion

  2. Cumulative live birth rate (CLBR) per couple

    CLBR per couple will be measured as a percentage

    Time frame: 7 years of inclusion

  3. Abortion rate (AR)

    AR will be measured as a percentage

    Time frame: 7 years of inclusion

Secondary outcomes

  1. Aneuploidy

    Aneuploidy embryo rate will be measured as a percentage

    Time frame: 7 years of inclusion

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Study locations

No study locations are listed for this record.

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References and documents

Study documents

  • Study protocol · Jun 29, 2023
  • Informed consent form · Jun 29, 2023

Documents are hosted by the registry — open the source record to download them.

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Registry details

Key details

Study ID
NCT05936749
Lead sponsor
Istituto Clinico Humanitas
Responsible party
Sponsor
First posted
Jul 10, 2023
Start date
Jan 2, 2016
Primary completion
Dec 12, 2022
Completion
Dec 12, 2022
Last update
Jul 10, 2023

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Jun 2023. You cannot join it, but the record below documents what was studied.

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