Trials Sponsors Conditions Drugs Pricing

Conditions

Bicuspid Aortic Valve Marfan Syndrome Turner Syndrome

Keywords

Sex chromosomeTurner SyndromeMarfan syndromeBicuspid aortic valveAortic AneurysmEpigeneticsTranscriptomenon-coding RNAElectron microscopyProteomics

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

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

Age18 Years - 90 Years

Sexall

Healthy VolunteersNo

Age GroupsAdult (18-64), Older Adult (65+)

Sampling MethodNon-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)

Sponsors & Collaborators

University of Aarhus
Otherlead

Study Sites (1)

Department of Endocrinology and Internal medicine

Aarhus C, 8000, Denmark

Biospecimen

Retention: SAMPLES WITH DNA

Aortic tissue Blood Serum

MeSH Terms

Conditions

Turner SyndromeBicuspid Aortic Valve DiseaseMarfan SyndromeAortic Aneurysm

Condition Hierarchy (Ancestors)

Gonadal DysgenesisDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesSex Chromosome Disorders of Sex DevelopmentMale Urogenital DiseasesHeart Defects, CongenitalCardiovascular Abnormalities

Study Officials

Christian Trolle
Aarhus University Hospital
PRINCIPAL INVESTIGATOR
Claus H Gravholt, MD, Ph.d.
Aarhus University Hospital
STUDY DIRECTOR

Enrollment

5 participants (actual enrollment reported by the registry).

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 2013

Date type not reported

This date has not been verified as actual or estimated.

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (6)

Study Arms (4)

Turner syndrome (TS)

Marfan syndrome (MS)

Bicuspid aortic valve

Controls

Eligibility Criteria

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (6)

Study Arms (4)

Turner syndrome (TS)

Marfan syndrome (MS)

Bicuspid aortic valve

Controls

Eligibility Criteria

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations