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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.

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Conditions studied

  • Genetic Disease
  • Aneuploidy
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In context

Genetic Diseases, Inborn

583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.

This study's enrollment of 76 is below the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.

Browse Genetic Diseases, Inborn studies →

Lead sponsor

Istituto Clinico Humanitas is the lead sponsor of 279 studies on the registry; 70 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

PDFs hosted by the registry, ClinicalTrials.gov.

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 10, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05936749
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 ↗

Not currently enrolling

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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Discussion

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