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Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
This study has been completed.
Sponsor:
University of Aarhus
Information provided by (Responsible Party):
University of Aarhus
ClinicalTrials.gov Identifier:
NCT01760668
First received: January 2, 2013
Last updated: May 23, 2016
Last verified: June 2015
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Purpose
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 |
|---|
| Turner Syndrome Bicuspid Aortic Valve Marfan Syndrome |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Cross-Sectional |
| Official Title: | Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome |
Resource links provided by NLM:
Genetic and Rare Diseases Information Center resources:
Turner Syndrome
Gonadal Dysgenesis
Marfan Syndrome
Aortic Valve Stenosis
U.S. FDA Resources
Further study details as provided by University of Aarhus:
Primary Outcome Measures:
- 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
| Enrollment: | 5 |
| Study Start Date: | February 2013 |
| Study Completion Date: | October 2015 |
| Primary Completion Date: | October 2015 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
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.
|
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.
Eligibility| Ages Eligible for Study: | 18 Years to 90 Years (Adult, Senior) |
| 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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To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01760668
Please refer to this study by its ClinicalTrials.gov identifier: NCT01760668
Locations
| Denmark | |
| Department of Endocrinology and Internal medicine | |
| Aarhus C, Denmark, 8000 | |
Sponsors and Collaborators
University of Aarhus
Investigators
| Principal Investigator: | Christian Trolle | Aarhus University Hospital |
| Study Director: | Claus H Gravholt, MD, Ph.d. | Aarhus University Hospital |
More Information
| Responsible Party: | University of Aarhus |
| ClinicalTrials.gov Identifier: | NCT01760668 History of Changes |
| Other Study ID Numbers: |
1-10-72-561-12 |
| Study First Received: | January 2, 2013 |
| Last Updated: | May 23, 2016 |
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:
|
Syndrome Turner Syndrome Gonadal Dysgenesis Primary Ovarian Insufficiency Marfan Syndrome Arachnodactyly Heart Valve Diseases Aortic Valve Stenosis 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 Ovarian Diseases Adnexal Diseases Genital Diseases, Female Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases Abnormalities, Multiple |
ClinicalTrials.gov processed this record on September 21, 2017