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

Status:	Completed
Conditions:	Other Indications, Cardiology, Cardiology, Cardiology, Neurology, Orthopedic
Therapuetic Areas:	Cardiology / Vascular Diseases, Neurology, Orthopedics / Podiatry, Other
Healthy:	No
Age Range:	Any - 60
Updated:	3/16/2017
Start Date:	July 1, 2014
End Date:	July 1, 2016

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.

Inclusion Criteria: To be in the study, the participant must meet the following 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: Participant will be excluded from the study for any of the following
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

We found this trial at

sites

University of Colorado Hospital

12605 East 16th Avenue
Aurora, Colorado 80045

720-848-0000