Turner Syndrome Clinical Trial
Official title:
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).
Status | Completed |
Enrollment | 5 |
Est. completion date | October 2015 |
Est. primary completion date | October 2015 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 18 Years to 90 Years |
Eligibility |
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) |
Observational Model: Cohort, Time Perspective: Cross-Sectional
Country | Name | City | State |
---|---|---|---|
Denmark | Department of Endocrinology and Internal medicine | Aarhus C |
Lead Sponsor | Collaborator |
---|---|
University of Aarhus |
Denmark,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Histone modifications | Permissive and repressive histone modifications on the X-chromosome | Cross sectional | No |
Primary | 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 | No |
Primary | DNA-methylations of CpG-islands | mapping DNA-methylations of CpG-islands | Cross sectional | No |
Primary | Electron microscopic evaluation | Cross sectional | No | |
Primary | Karyotyping by FISH and conventional karyotyping | Cross sectional | No | |
Primary | Proteomics | Cross sectional | No |
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