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

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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

Study Description
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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).


Condition or disease
Turner Syndrome Bicuspid Aortic Valve Marfan Syndrome

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 Design
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Study Type : Observational
Actual Enrollment : 5 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
Study Start Date : February 2013
Actual Primary Completion Date : October 2015
Actual Study Completion Date : October 2015

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Groups and Cohorts
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Group/Cohort
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.


Outcome Measures
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Primary Outcome Measures :
  1. Histone modifications [ Time Frame: Cross sectional ]
    Permissive and repressive histone modifications on the X-chromosome

  2. 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

  3. DNA-methylations of CpG-islands [ Time Frame: Cross sectional ]
    mapping DNA-methylations of CpG-islands

  4. Electron microscopic evaluation [ Time Frame: Cross sectional ]
  5. Karyotyping by FISH and conventional karyotyping [ Time Frame: Cross sectional ]
  6. Proteomics [ Time Frame: Cross sectional ]

Biospecimen Retention:   Samples With DNA

Aortic tissue

Blood Serum


Eligibility Criteria
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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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).
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)

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01760668


Locations
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Denmark
Department of Endocrinology and Internal medicine
Aarhus C, Denmark, 8000
Sponsors and Collaborators
University of Aarhus
Investigators
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Principal Investigator: Christian Trolle Aarhus University Hospital
Study Director: Claus H Gravholt, MD, Ph.d. Aarhus University Hospital
More Information
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Responsible Party: University of Aarhus
ClinicalTrials.gov Identifier: NCT01760668    
Other Study ID Numbers: 1-10-72-561-12
First Posted: January 4, 2013    Key Record Dates
Last Update Posted: May 24, 2016
Last Verified: June 2015
Keywords provided by University of Aarhus:
Sex chromosome
Turner Syndrome
Marfan syndrome
Bicuspid aortic valve
Aortic Aneurysm
 Epigenetics
Transcriptome
non-coding RNA
Electron microscopy
Proteomics
Additional relevant MeSH terms:
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Marfan Syndrome
Arachnodactyly
Turner Syndrome
Gonadal Dysgenesis
Heart Valve Diseases
Syndrome
Disease
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
 Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Abnormalities, Multiple
Connective Tissue Diseases
Limb Deformities, Congenital
Musculoskeletal Abnormalities