By InvitationNot Applicable

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

Denmark300 participantsStarted 2024-09-01

Plain-language summary

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.

Who can participate

Age range

0 Years – 50 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria for pregnant participants in case group: Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent Inclusion Criteria for pregnant participants in control group: Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent Inclusion Criteria for mothers in the case group: Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent Inclusion Criteria for mothers in the control group: 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 Inclusion Criteria for children in the case group: 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) Inclusion Criteria for children in the control group: If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination Exclusion Criteria for all groups: Severe claustrophobia Implanted magnetic material contraindicating MRI

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Level of DNA methylation

Timeframe: 5 years

Level of RNA ekspression

Timeframe: 5 years

Height

Timeframe: 5 years

Weight

Timeframe: 5 years

Body mass index

Timeframe: 5 years

Head circumference

Timeframe: 5 years

Fat mass and fat-free mass

Timeframe: 5 years

Development

Timeframe: 5 years

Trial details

NCT IDNCT07341412

SponsorUniversity of Aarhus

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2034-01-01

View on ClinicalTrials.gov More Sex Chromosome Disorders trials

Plain-language summary

Who can participate

Age range

0 Years – 50 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.