Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome

Completed

• Conditions: Marfan Syndrome; Bicuspid Aortic Valve; Turner Syndrome

• Registration Number: NCT01760668
• Lead Sponsor: University of Aarhus

Brief 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).

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2013-01-02
• Study First Submitted QC: 2013-01-02
• Study First Posted: 2013-01-04
• Study Start: 2013-02
• Status Verified: 2015-06
• Primary Completion: 2015-10
• Study Completion: 2015-10
• Last Update Submitted: 2016-05-23
• Last Update Posted: 2016-05-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 5

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Karyotyping by FISH and conventional karyotyping	Cross sectional
Proteomics	Cross sectional
DNA-methylations of CpG-islands	Cross sectional	mapping DNA-methylations of CpG-islands
Histone modifications	Cross sectional	Permissive and repressive histone modifications on the X-chromosome
mRNA and non-coding RNAs	Cross sectional	Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
Electron microscopic evaluation	Cross sectional

Trial Locations

Locations (1)

Department of Endocrinology and Internal medicine; 🇩🇰 Aarhus C, Denmark