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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01760668
Other study ID # 1-10-72-561-12
Secondary ID
Status Completed
Phase N/A
First received January 2, 2013
Last updated May 23, 2016
Start date February 2013
Est. completion date October 2015

Study information

Verified date June 2015
Source University of Aarhus
Contact n/a
Is FDA regulated No
Health authority Denmark: Ethics CommitteeDenmark: Danish Dataprotection Agency
Study type Observational

Clinical 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. 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).


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.


Recruitment information / eligibility

Status Completed
Enrollment 5
Est. completion date October 2015
Est. primary completion date October 2015
Accepts healthy volunteers No
Gender Both
Age group 18 Years to 90 Years
Eligibility Turner syndrome (TS).

A. Inclusion

- TS verified by genotyping

- Age > 18 years

- Awaiting operation due to aortic dilation

B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)

Marfan syndrome (MS)

A. Inclusion

- Females with MS verified clinically or by genotyping

- Age > 18 years

- Awaiting operation due to aortic dilation

B. Exclusion

- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)

Bicuspid aortic valve

A. Inclusion

- Females with Bicuspid aortic valve

- Age > 18 years

- Awaiting operation due to aortic dilation

B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)

Controls

A. Inclusion

- Men/females who died from conditions other than aortic dilation or dissection.

- Age 20-60 years.

B. Exclusion

- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional


Locations

Country Name City State
Denmark Department of Endocrinology and Internal medicine Aarhus C

Sponsors (1)

Lead Sponsor Collaborator
University of Aarhus

Country where clinical trial is conducted

Denmark, 

Outcome

Type Measure Description Time frame Safety issue
Primary Histone modifications Permissive and repressive histone modifications on the X-chromosome Cross sectional No
Primary 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 Cross sectional No
Primary DNA-methylations of CpG-islands mapping DNA-methylations of CpG-islands Cross sectional No
Primary Electron microscopic evaluation Cross sectional No
Primary Karyotyping by FISH and conventional karyotyping Cross sectional No
Primary Proteomics Cross sectional No
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