Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes

Study Overview
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Brief Summary
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The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The investigators propose the use of a simple blood test, from which miRNA profiles can be measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a control population that has no known predisposition for aortic disease. The investigators hypothesize that microRNA profiles in individuals with Marfan syndrome, and related disorders, will be distinct from those seen in a control group. The investigators predict that up- or down-regulation of certain miRNAs will correlate with the presence and severity of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine when an individual may be at risk of dissection.

Official Title
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Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes

Conditions
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Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome, Turner Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: To be in the study, the participant must meet the following criteria Diagnosis of hereditary aortopathy based upon: Confirmation of a disease causing mutation in a known aortopathy disorder OR Confirmation of disease based on published clinical criteria Participants is male or female and greater than 30 days old Participants are able to undergo standard of care cardiac monitoring including an echocardiogram Willing and able to provide written informed consent by parent(s) or guardian(s) after the nature of the study has been explained and prior to any research related procedures Signed HIPPA compliant research authorization Exclusion Criteria: Participant will be excluded from the study for any of the following criteria Diagnosis of a hereditary aortopathy can not be confirmed Existence of an additional comorbid condition- including a co-existing genetic syndrome, heart failure, renal disease, rheumatologic disease, history of malignancy, thyroid disease, recent stroke, other life-limiting illness not related to cardiovascular disease. Extreme prematurity, <28 weeks gestational age

Ages Eligible for Study
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Minimum Age: 30 Days
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Marfan syndrome<br>Individuals with a clinical diagnosis of Marfan syndrome | |
| Aortopathy syndrome<br>Individuals with one of the following clinical diagnoses: Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos type IV syndrome, Thoracic Aortic Aneurysm and Dissection syndromes. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Plasma miRNA profiling in individuals with Marfan syndrome | In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with Marfan syndrome and compare to profiles in normal age-matched controls. | 2 years | 
| Plasma miRNA profiling in individuals with aortopathy syndromes | In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with aortopathy syndromes and compare to profiles in normal age-matched controls. | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Correlation of plasma miRNA profiles with aortic dimensions | In a cross-sectional analysis correlate miRNA profiles with aortic dimension and Z-score, type of medication used, history of aneurysm and/or dissection, and need for surgical intervention in individuals with MFS. | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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aortopathy syndrome, aortic aneurysm, aortic dissection, connective tissue disorder