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

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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Key information

Conditions

Marfan Syndrome Abnormalities, Multiple Acute Aortic Syndrome Aneurysm Aortic Aneurysm Aortic Aneurysm, Thoracic Aortic Diseases Aortic Dissection Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Craniofacial Abnormalities Disorders of Sex Development Dissection, Blood Vessel Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos Type IV Syndrome Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Loeys-Dietz Syndrome Male Urogenital Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Thoracic Aortic Aneurysm and Dissection Syndromes Turner Syndrome Urogenital Abnormalities Urogenital Diseases Vascular Diseases

Age range

30 day–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital Colorado, Aurora, Colorado, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Plasma miRNA profiling in individuals with Marfan syndrome

Time frame: 2 years

In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with Marfan syndrome and compare to profiles in normal age-matched controls.
Plasma miRNA profiling in individuals with aortopathy syndromes

Time frame: 3 years

In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with aortopathy syndromes and compare to profiles in normal age-matched controls.

Secondary outcomes

Correlation of plasma miRNA profiles with aortic dimensions

Time frame: 2 years

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.

Other outcomes

Correlation of plasma miRNA with progression of aortic aneurysm

Time frame: 5 years

Correlate miRNA patterns with changes in aortic dimension and Z-score longitudinally at yearly time points.

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Registry information

Important dates

Study start: 2014
Primary completion: 2016
Study completion: 2016
First posted: Aug 11, 2014
Registry last updated: Mar 15, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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