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

June 29, 2023 updated by: Istituto Clinico Humanitas
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

76

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

N/A

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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • No exclusion criteria will be taken into consideration.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Live birth rate (LBR)
Time Frame: 7 years of inclusion
LBR will be measured as a percentage
7 years of inclusion
Cumulative live birth rate (CLBR) per couple
Time Frame: 7 years of inclusion
CLBR per couple will be measured as a percentage
7 years of inclusion
Abortion rate (AR)
Time Frame: 7 years of inclusion
AR will be measured as a percentage
7 years of inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Aneuploidy
Time Frame: 7 years of inclusion
Aneuploidy embryo rate will be measured as a percentage
7 years of inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Istituto Clinico Humanitas

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 2, 2016

Primary Completion (Actual)

December 12, 2022

Study Completion (Actual)

December 12, 2022

Study Registration Dates

First Submitted

June 14, 2023

First Submitted That Met QC Criteria

June 29, 2023

First Posted (Actual)

July 10, 2023

Study Record Updates

Last Update Posted (Actual)

July 10, 2023

Last Update Submitted That Met QC Criteria

June 29, 2023

Last Verified

June 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14/23

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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