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Completed

NCT Number: NCT01760668

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).

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Key information

Conditions

Turner Syndrome Abnormalities, Multiple Aneurysm Aortic Aneurysm Aortic Diseases Aortic Valve Disease Bicuspid Aortic Valve Bicuspid Aortic Valve Disease Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Heart Valve Diseases Male Urogenital Diseases Marfan Syndrome Musculoskeletal Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Skin and Connective Tissue Diseases Urogenital Abnormalities Urogenital Diseases Vascular Diseases

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Endocrinology and Internal medicine

Aarhus C, 8000, Denmark

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

University of Aarhus

Other

Registry information

Important dates

Study start
2013
Primary completion
2015
Study completion
2015
First posted
Jan 4, 2013
Registry last updated
May 24, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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