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

Turner Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01760668
• Other study ID #: 1-10-72-561-12
• 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

Related Conditions & MeSH terms

• Aortic Valve Stenosis
• Bicuspid Aortic Valve
• Gonadal Dysgenesis
• Heart Valve Diseases
• Marfan Syndrome
• Primary Ovarian Insufficiency
• Syndrome
• Turner Syndrome

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