Clinical and Genetic Aspects of Fetuses With Sex-chromoso... | NCT07304193

Studies
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

NCT07304193

Sponsor

University of Aarhus

Status

Enrolling by invitation

Last Update Posted

Jan 8, 2026Actual

Enrollment

120Estimated

Phase

Not provided

Conditions

Sex Chromosome Disorders

Interventions

Not provided

Countries

Denmark

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

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 1, 2024Actual

Primary Completion Date

Dec 31, 2029Estimated

Completion Date

Dec 31, 2029Estimated

First Submitted Date

Dec 12, 2025

First Submission Date that Met QC Criteria

Dec 12, 2025

First Posted Date

Dec 26, 2025Actual

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

Jan 6, 2026

Last Update Posted Date

Jan 8, 2026Actual

Name	Class
Aarhus University Hospital	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

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

To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to:

delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple fetal tissues in fetuses with sex chromosome disorders;
identify the epigenetic and genetic mechanisms and placental and fetal alterations that underlie the phenotypic manifestations observed in fetuses with sex chromosome disorders.

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

Retention

Enrollment

120Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
DNA methylation profile	DNA methylation of placenta DNA methylation across fetal tissues	5 years
Gene expression profile	RNA expression of placenta RNA expression across fetal tissue	5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion criteria cases:

Age ≥18 years
Fetuses with genetically verified sex chromosome disorders
Gestational age between 11+0 and 22+6 at the time of abortion or at delivery due to intrauterine fetal death
Written informed consent

Inclusion criteria cases:

Age ≥18 years
No known sex chromosome disorder or other genetic disorder in the fetus
No known fetal malformations
Fetal growth within the normal range
Gestational age between 11+0 and 22+6 at the time of abortion

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

11 Weeks

Maximum Age

22 Weeks

Standard Ages

Child

Study Population

Recruitent of cases will take place at obstetric departments and departments of clinical genetics throughout Denmark.

Recruitment of controls will take place at obstetric departments in the Central Denmark Region.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Anne Skakkebæk, MD, PHD	Aarhus University Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Aarhus University Hospital		Aarhus		8200	Denmark

Condition Browse Module

MeSH Terms

ID	Term
D025064	Sex Chromosome Disorders
D014424	Turner Syndrome
D007713	Klinefelter Syndrome
C535317	47, XYY syndrome
C535318	Triple X syndrome

Ancestor Terms

ID	Term
D025063	Chromosome Disorders
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D030342	Genetic Diseases, Inborn

Browse Leaves

Not provided

Browse Branches

Not provided

Label	Type	Description	Intervention Names
Electively aborted fetuses with genetically verified sex chromosome abnormalities
Elective aborted health fetuses