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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01760668
Recruitment Status : Completed
First Posted : January 4, 2013
Last Update Posted : May 24, 2016
Sponsor:
Information provided by (Responsible Party):
University of Aarhus

Tracking Information
First Submitted Date January 2, 2013
First Posted Date January 4, 2013
Last Update Posted Date May 24, 2016
Study Start Date February 2013
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 4, 2013)
  • 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 ]
Original Primary Outcome Measures
 (submitted: January 2, 2013)
  • Histone modifications [ Time Frame: Once ]
    Permissive and repressive histone modifications on the X-chromosome
  • mRNA and non-coding RNAs [ Time Frame: Once ]
    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 ]
    mapping DNA-methylations of CpG-islands
  • Light microscopic evaluation [ Time Frame: Once ]
    Light microscopic evaluation
  • Electron microscopic evaluation [ Time Frame: Once ]
    Electron microscopic evaluation
  • Karyotyping by FISH and conventional karyotyping [ Time Frame: Once ]
    Karyotyping by FISH and conventional karyotyping
  • Proteomics [ Time Frame: Once ]
    Proteomics
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
Official Title Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:

Aortic tissue

Blood Serum

Sampling Method Non-Probability Sample
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).
Condition
  • Turner Syndrome
  • Bicuspid Aortic Valve
  • Marfan Syndrome
Intervention Not Provided
Study Groups/Cohorts
  • 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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: May 23, 2016)
5
Original Estimated Enrollment
 (submitted: January 2, 2013)
60
Actual Study Completion Date October 2015
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria

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)

Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 90 Years   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Denmark
Removed Location Countries  
 
Administrative Information
NCT Number NCT01760668
Other Study ID Numbers 1-10-72-561-12
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Aarhus
Study Sponsor University of Aarhus
Collaborators Not Provided
Investigators
Principal Investigator: Christian Trolle Aarhus University Hospital
Study Director: Claus H Gravholt, MD, Ph.d. Aarhus University Hospital
PRS Account University of Aarhus
Verification Date June 2015