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

• Sponsor: Istituto Clinico Humanitas (Other)
• Overall Status: Completed
• CT.gov ID: NCT05936749
• Collaborator: (none)
• Enrollment: 76
• Actual Duration (Months): 83.3

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Genetic Disease; Aneuploidy	Genetic: Pre-implantation genetic testing

Study Design

• Study Type: Observational
• Actual Enrollment: 76 participants
• Observational Model: Cohort
• Time Perspective: Retrospective
• Official Title: Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience
• Actual Study Start Date: Jan 2, 2016
• Actual Primary Completion Date: Dec 12, 2022
• Actual Study Completion Date: Dec 12, 2022

Outcome Measures

Primary Outcome Measures

1. Live birth rate (LBR) [7 years of inclusion]

   LBR will be measured as a percentage

2. Cumulative live birth rate (CLBR) per couple [7 years of inclusion]

   CLBR per couple will be measured as a percentage

3. Abortion rate (AR) [7 years of inclusion]

   AR will be measured as a percentage

Secondary Outcome Measures

1. Aneuploidy [7 years of inclusion]

   Aneuploidy embryo rate will be measured as a percentage

Eligibility Criteria

Criteria

• Ages Eligible for Study: 34 Years to 42 Years
• Sexes Eligible for Study: Female

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.

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

• Istituto Clinico Humanitas

Investigators

None specified.

Study Documents (Full-Text)

• Study Protocol - Jun 29, 2023
• Informed Consent Form - Jun 29, 2023

More Information

Publications

None provided.

• Responsible Party: Istituto Clinico Humanitas
• ClinicalTrials.gov Identifier: NCT05936749
• Other Study ID Numbers: 14/23
• First Posted: Jul 10, 2023
• Last Update Posted: Jul 10, 2023
• Last Verified: Jun 1, 2023

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Genetic Diseases, Inborn; Aneuploidy

Study Results

No Results Posted as of Jul 10, 2023