Turner SyndromeNCT01760668
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
An observational study of Turner Syndrome and Bicuspid Aortic Valve, run by University of Aarhus at 1 site in Denmark.
Trial summary
The study aim is: 1. To examine aortic tissue by light microscopy 2. To examine aortic tissue by electron microscopy 3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue. 4. To examine aortic tissue using biochemistry including proteomics. 5. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Turner Syndrome, Bicuspid Aortic Valve, Marfan Syndrome
- How many people
- 5 participants
- Where
- 1 siteDenmark
- Study dates
- Feb 2013to Oct 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Individuals with Turner syndrome will be recruited from out-patient clinics. Individuals with Turner syndrome, Marfan syndrome and bicuspid aortic valve will be recruited from departments of cardiology or thoracic surgery in Odense, Copenhagen or Aarhus (Denmark).
Turner syndrome (TS).
- Inclusion
- TS verified by genotyping
- Age > 18 years
- Awaiting operation due to aortic dilation
- Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
Marfan syndrome (MS)
- Inclusion
- Females with MS verified clinically or by genotyping
- Age > 18 years
- Awaiting operation due to aortic dilation
- Exclusion
- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
Bicuspid aortic valve
- Inclusion
- Females with Bicuspid aortic valve
- Age > 18 years
- Awaiting operation due to aortic dilation
- Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
Controls
- Inclusion
- Men/females who died from conditions other than aortic dilation or dissection.
- Age 20-60 years.
- Exclusion
- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Department of Endocrinology and Internal medicine
Aarhus C, 8000
About this study
The study aim is:
- To examine aortic tissue by light microscopy
- To examine aortic tissue by electron microscopy
- To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
- To examine aortic tissue using biochemistry including proteomics.
- To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.
Read more
30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.
The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).
Read the detailed description
Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.
- Conditions
- Turner Syndrome, Bicuspid Aortic Valve, Marfan Syndrome
- Keywords
- Sex chromosome, Turner Syndrome, Marfan syndrome, Bicuspid aortic valve, Aortic Aneurysm, Epigenetics, Transcriptome, non-coding RNA, Electron microscopy, Proteomics
- Medical subject headings
- Turner Syndrome, Bicuspid Aortic Valve Disease, Marfan Syndrome, Aortic Aneurysm
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 |
|---|---|---|
| Turner syndrome (TS) | TS verified by genotyping Age > 18 years awaiting operation due to aortic dilation | |
| Marfan syndrome (MS) | Females with MS verified clinically or by genotyping Age > 18 years awaiting operation due to aortic dilation | |
| Bicuspid aortic valve | females with bicuspid aortic valve Age > 18 years awaiting operation due to aortic dilation | |
| Controls | Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Histone modifications
Permissive and repressive histone modifications on the X-chromosome
Measured: Cross sectional
mRNA and non-coding RNAs
Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
Measured: Cross sectional
DNA-methylations of CpG-islands
mapping DNA-methylations of CpG-islands
Measured: Cross sectional
Electron microscopic evaluation
Measured: Cross sectional
Karyotyping by FISH and conventional karyotyping
Measured: Cross sectional
Proteomics
Measured: Cross sectional
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jan 2013 (estimated)
- Study startFeb 2013
- Primary completionOct 2015
- Study completionOct 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Aarhus
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Christian Trolle, Principal investigator, Aarhus University HospitalClaus H Gravholt, MD, Ph.d., Study director, Aarhus University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01760668
- Sponsor's protocol ID
- 1-10-72-561-12
- Status last verified
- Jun 2015
- First submitted
- 2 Jan 2013
- Last updated
- 24 May 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 May 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
- ClinicalTrials.gov ID
- NCT01760668
- Acronym / sponsor ID
- 1-10-72-561-12
- Conditions
- Turner Syndrome, Bicuspid Aortic Valve, Marfan Syndrome
- Keywords
- Sex chromosome, Turner Syndrome, Marfan syndrome, Bicuspid aortic valve, Aortic Aneurysm, Epigenetics, Transcriptome, non-coding RNA
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- University of AarhusUniversity, hospital or other
- Study start
- Feb 2013
- Primary completion
- Oct 2015 (actual)
- Study completion
- Oct 2015 (actual)
- First posted
- 4 Jan 2013 (estimated)
- 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.
The study aim is:
- To examine aortic tissue by light microscopy
- To examine aortic tissue by electron microscopy
- To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
- To examine aortic tissue using biochemistry including proteomics.
- To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.
30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.
The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).
Detailed description
Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Turner syndrome (TS) | – | –TS verified by genotyping Age > 18 years awaiting operation due to aortic dilation |
| Marfan syndrome (MS) | – | –Females with MS verified clinically or by genotyping Age > 18 years awaiting operation due to aortic dilation |
| Bicuspid aortic valve | – | –females with bicuspid aortic valve Age > 18 years awaiting operation due to aortic dilation |
| Controls | – | –Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Individuals with Turner syndrome will be recruited from out-patient clinics. Individuals with Turner syndrome, Marfan syndrome and bicuspid aortic valve will be recruited from departments of cardiology or thoracic surgery in Odense, Copenhagen or Aarhus (Denmark).
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
Histone modifications
Time frame: Cross sectional
Permissive and repressive histone modifications on the X-chromosome
mRNA and non-coding RNAs
Time frame: Cross sectional
Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
DNA-methylations of CpG-islands
Time frame: Cross sectional
mapping DNA-methylations of CpG-islands
Electron microscopic evaluation
Time frame: Cross sectional
Karyotyping by FISH and conventional karyotyping
Time frame: Cross sectional
Proteomics
Time frame: Cross sectional
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 May 2016.
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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. This study is not recruiting at the moment.
Christian Trolle principal investigator
Aarhus University Hospital
Claus H Gravholt, MD, Ph.d. study director
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 Turner Syndrome and Bicuspid Aortic Valve, 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?
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: finished, as of the sponsor's last update on 24 May 2016. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Histone modifications (time frame: Cross sectional). The study lists 6 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 24 May 2016.