Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders

NCT ID: NCT07341412

Last Updated: 2026-01-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-09-01

Study Completion Date

2034-01-01

Brief Summary

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The aim of the project is to:

1. Investigate organ development and growth in fetuses with sex chromosome disorders;
2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple tissues of the child after birth over time during early childhood;
4. Investigate the gut microbiome in children with sex chromosome disorders during the first years of life;
5. Identify the epigenetic and genetic mechanisms and placental and child-specific alterations underlying the phenotype observed in fetuses, children, and adults with sex chromosome disorders, using a deep phenotyping approach.

Detailed Description

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Conditions

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Sex Chromosome Disorders

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Pregnant women carrying a fetus with a sex chromosome disorder

No interventions assigned to this group

Pregnant women carrying a fetus without a sex chromosome disorder (Controls)

No interventions assigned to this group

Mothers of a child with a sex chromosome disorder

No interventions assigned to this group

MOthers of a child without a sex chromosome disorder (Controls)

No interventions assigned to this group

Children with a sex chromosome disorder

No interventions assigned to this group

Children without a sex chromosome disorder (Controls)

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent


Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent


Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent


Age ≥18 years at the time of pregnancy with the child Normal first- and second-trimester ultrasound examinations during the pregnancy Normal fetal growth during the pregnancy Written informed consent


If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination Child with a genetically verified sex chromosome disorder (prenatally or postnatally diagnosed)


If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination

Exclusion Criteria

Severe claustrophobia Implanted magnetic material contraindicating MRI
Minimum Eligible Age

0 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Aarhus University Hospital

OTHER

Sponsor Role collaborator

University of Aarhus

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Anne Skakkebæk, MD, PHD

Role: PRINCIPAL_INVESTIGATOR

Aarhus University Hospital

Locations

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Aarhus University Hospital

Aarhus, , Denmark

Site Status

Countries

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Denmark

Other Identifiers

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1-10-72-65-24

Identifier Type: -

Identifier Source: org_study_id

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