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

NCT01760668 | Completed

• 1 other identifier: 1-10-72-561-12
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

The study aim is:

1. 1.To examine aortic tissue by light microscopy
2. 2.To examine aortic tissue by electron microscopy
3. 3.To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
4. 4.To examine aortic tissue using biochemistry including proteomics.
5. 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.

Conditions

Turner Syndrome; Bicuspid Aortic Valve; Marfan Syndrome

Keywords

Sex chromosome; Turner Syndrome; Marfan syndrome; Bicuspid aortic valve; Aortic Aneurysm; Epigenetics; Transcriptome; non-coding RNA; Electron microscopy; Proteomics

Outcome Measures

Primary Outcomes (6)

• Histone modifications

  Permissive and repressive histone modifications on the X-chromosome

  Cross sectional

• 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

• DNA-methylations of CpG-islands

  mapping DNA-methylations of CpG-islands

  Cross sectional

• Electron microscopic evaluation

  Cross sectional

• Karyotyping by FISH and conventional karyotyping

  Cross sectional

• Proteomics

  Cross sectional

Study Arms (4)

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.

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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).

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)

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• University of Aarhus: lead

Study Sites (1)

Department of Endocrinology and Internal medicine

Aarhus C, 8000, Denmark

Location

Biospecimen

Retention: SAMPLES WITH DNA

Aortic tissue Blood Serum

MeSH Terms

Conditions

Turner Syndrome; Bicuspid Aortic Valve Disease; Marfan Syndrome; Aortic Aneurysm

Condition Hierarchy (Ancestors)

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

Study Officials

• Christian Trolle

  Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

• Claus H Gravholt, MD, Ph.d.

  Aarhus University Hospital

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 2, 2013
• First Posted: January 4, 2013
• Study Start: February 1, 2013
• Primary Completion: October 1, 2015
• Study Completion: October 1, 2015
• Last Updated: May 24, 2016

Record last verified: 2015-06

Locations

DK (1)