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
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The study aim is:
- To examine aortic tissue by light microscopy
- To examine aortic tissue by electron microscopy
- To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
- To examine aortic tissue using biochemistry including proteomics.
- 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 |
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Turner Syndrome Bicuspid Aortic Valve Marfan Syndrome |
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 |

Group/Cohort |
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Turner syndrome (TS)
TS verified by genotyping Age > 18 years awaiting operation due to aortic dilation
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Marfan syndrome (MS)
Females with MS verified clinically or by genotyping Age > 18 years awaiting operation due to aortic dilation
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Bicuspid aortic valve
females with bicuspid aortic valve Age > 18 years awaiting operation due to aortic dilation
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Controls
Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years.
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- 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 ]
Biospecimen Retention: Samples With DNA
Aortic tissue
Blood Serum

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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 |
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)

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
Denmark | |
Department of Endocrinology and Internal medicine | |
Aarhus C, Denmark, 8000 |
Principal Investigator: | Christian Trolle | Aarhus University Hospital | |
Study Director: | Claus H Gravholt, MD, Ph.d. | Aarhus University Hospital |
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 |
Sex chromosome Turner Syndrome Marfan syndrome Bicuspid aortic valve Aortic Aneurysm |
Epigenetics Transcriptome non-coding RNA Electron microscopy Proteomics |
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 |