Sex Chromosome DisordersNCT07304193
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
An observational study of Sex Chromosome Disorders, run by University of Aarhus at 1 site in Denmark.
Trial 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: 1. Read more about this study
- Who is it for?
- Ages 11 to 22 weeks
- Conditions the study is for
- Sex Chromosome Disorders
- How many people
- 120 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Jan 2024to 31 Dec 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 11 to 22 weeks
- All sexes
- No healthy volunteers
- 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.
Who may be able to join
- 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
- Age ≥18 years
- No known sex chromosome disorder or other genetic disorder in the fetus
Show all 9Show fewer
- No known fetal malformations
- Fetal growth within the normal range
- Gestational age between 11+0 and 22+6 at the time of abortion
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
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.
- Conditions
- Sex Chromosome Disorders
- Keywords
- Turner syndrome, Klinefelter syndrome, XYY syndrome, XXX syndrome
- Medical subject headings
- Sex Chromosome Disorders, Turner Syndrome, Klinefelter Syndrome, 47, XYY syndrome, Triple X syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Electively aborted fetuses with genetically verified sex chromosome abnormalities | Not described | |
| Elective aborted health fetuses | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
DNA methylation profile
DNA methylation of placenta DNA methylation across fetal tissues
Measured: 5 years
Gene expression profile
RNA expression of placenta RNA expression across fetal tissue
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Dec 2025
- Study start1 Jan 2024
- Primary completion31 Dec 2029 (estimated)
- Study completion31 Dec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sex Chromosome DisordersStudies of the same condition, open and under way.
- More trials run by University of AarhusThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Aarhus
- Sponsor type
- University, hospital or other
- Collaborators
- Aarhus University Hospital
- Responsible party
- Sponsor
- Investigators
- Anne Skakkebæk, MD, PHD, Principal investigator, Aarhus University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07304193
- Sponsor's protocol ID
- 1-10-72-170-23
- Status last verified
- Dec 2025
- First submitted
- 12 Dec 2025
- Last updated
- 8 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
- ClinicalTrials.gov ID
- NCT07304193
- Acronym / sponsor ID
- 1-10-72-170-23
- Conditions
- Sex Chromosome Disorders
- Keywords
- Turner syndrome, Klinefelter syndrome, XYY syndrome, XXX syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- University of AarhusUniversity, hospital or other
- Collaborators
- Aarhus University Hospital
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 31 Dec 2029 (estimated)
- Study completion
- 31 Dec 2029 (estimated)
- First posted
- 26 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Electively aborted fetuses with genetically verified sex chromosome abnormalities | – | – |
| Elective aborted health fetuses | – | – |
Who may qualify
- Ages
- 11 to 22 weeks
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- 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.
Key inclusion criteria (9 listed)
- 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
- Age ≥18 years
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
DNA methylation profile
Time frame: 5 years
DNA methylation of placenta DNA methylation across fetal tissues
Gene expression profile
Time frame: 5 years
RNA expression of placenta RNA expression across fetal tissue
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anne Skakkebæk, MD, PHD principal investigator
Aarhus University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sex Chromosome Disorders, run by University of Aarhus at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 8 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
DNA methylation profile (time frame: 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2026.