Pre-implantation Genetic Testing for Monogenic Disease: S... | NCT05936749

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

NCT05936749

Sponsor

Istituto Clinico Humanitas

Status

Completed

Last Update Posted

Jul 10, 2023Actual

Enrollment

76Actual

Phase

Not provided

Conditions

Genetic Disease
Aneuploidy

Interventions

Pre-implantation genetic testing

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

Large Document Module

Document Has No Statistical Analysis Plan (SAP)

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 2, 2016Actual

Primary Completion Date

Dec 12, 2022Actual

Completion Date

Dec 12, 2022Actual

First Submitted Date

Jun 14, 2023

First Submission Date that Met QC Criteria

Jun 29, 2023

First Posted Date

Jul 10, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 29, 2023

Last Update Posted Date

Jul 10, 2023Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

76Actual

Name	Type	Description	Arm Group Labels	Other Names
Pre-implantation genetic testing	Genetic

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Not provided

Sex

Female

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

34 Years

Maximum Age

42 Years

Standard Ages

Adult

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.

Sampling Method

Probability Sample

Uploaded Document Information

Type	Includes Protocol	Includes SAP	Includes ICF	Document Label	Document Date	Document Uploaded Date	Document File Name
Prot	Yes	No	No	Study Protocol	Jun 29, 2023	Jun 29, 2023	Prot_000.pdf
ICF	No	No	Yes	Informed Consent Form	Jun 29, 2023	Jun 29, 2023	ICF_001.pdf

Condition Browse Module

MeSH Terms

ID	Term
D030342	Genetic Diseases, Inborn
D000782	Aneuploidy

Ancestor Terms

ID	Term
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D002869	Chromosome Aberrations
D010335	Pathologic Processes
D013568	Pathological Conditions, Signs and Symptoms

Browse Leaves

Not provided

Browse Branches

Not provided