Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
NCT ID: NCT07341412
Last Updated: 2026-01-14
Study Results
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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ENROLLING_BY_INVITATION
300 participants
OBSERVATIONAL
2024-09-01
2034-01-01
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
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 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
0 Years
50 Years
ALL
No
Sponsors
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Aarhus University Hospital
OTHER
University of Aarhus
OTHER
Responsible Party
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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
Countries
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Other Identifiers
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1-10-72-65-24
Identifier Type: -
Identifier Source: org_study_id
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