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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
University of Aarhus
ClinicalTrials.gov Identifier:
NCT01760668
First received: January 2, 2013
Last updated: May 23, 2016
Last verified: June 2015

January 2, 2013
May 23, 2016
February 2013
October 2015   (final data collection date for primary outcome measure)
  • Histone modifications [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
    Permissive and repressive histone modifications on the X-chromosome
  • mRNA and non-coding RNAs [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    mapping DNA-methylations of CpG-islands
  • Electron microscopic evaluation [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
  • Karyotyping by FISH and conventional karyotyping [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
  • Proteomics [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
  • Histone modifications [ Time Frame: Once ] [ Designated as safety issue: No ]
    Permissive and repressive histone modifications on the X-chromosome
  • mRNA and non-coding RNAs [ Time Frame: Once ] [ Designated as safety issue: No ]
    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: Once ] [ Designated as safety issue: No ]
    mapping DNA-methylations of CpG-islands
  • Light microscopic evaluation [ Time Frame: Once ] [ Designated as safety issue: No ]
    Light microscopic evaluation
  • Electron microscopic evaluation [ Time Frame: Once ] [ Designated as safety issue: No ]
    Electron microscopic evaluation
  • Karyotyping by FISH and conventional karyotyping [ Time Frame: Once ] [ Designated as safety issue: No ]
    Karyotyping by FISH and conventional karyotyping
  • Proteomics [ Time Frame: Once ] [ Designated as safety issue: No ]
    Proteomics
Complete list of historical versions of study NCT01760668 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome

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).

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.
Observational
Observational Model: Cohort
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

Aortic tissue

Blood Serum

Non-Probability Sample
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
  • Bicuspid Aortic Valve
  • Marfan Syndrome
Not Provided
  • 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.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
5
October 2015
October 2015   (final data collection date for primary outcome measure)

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)

Both
18 Years to 90 Years   (Adult, Senior)
No
Contact information is only displayed when the study is recruiting subjects
Denmark
 
NCT01760668
1-10-72-561-12
No
Not Provided
Not Provided
University of Aarhus
University of Aarhus
Not Provided
Principal Investigator: Christian Trolle Aarhus University Hospital
Study Director: Claus H Gravholt, MD, Ph.d. Aarhus University Hospital
University of Aarhus
June 2015

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP