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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-07-01

Study Completion Date

2016-07-01

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.

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Detailed Description

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Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Marfan syndrome

Individuals with a clinical diagnosis of Marfan syndrome

No interventions assigned to this group

Aortopathy syndrome

Individuals with one of the following clinical diagnoses: Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos type IV syndrome, Thoracic Aortic Aneurysm and Dissection syndromes.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. 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
2. Participants is male or female and greater than 30 days old
3. Participants are able to undergo standard of care cardiac monitoring including an echocardiogram
4. 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
5. Signed HIPPA compliant research authorization

Exclusion Criteria

1. Diagnosis of a hereditary aortopathy can not be confirmed
2. 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.
3. Extreme prematurity, \<28 weeks gestational age

Minimum Eligible Age

30 Days

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes