Clinical trial NCT02213484: Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Official title: Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Marfan Syndrome
Loeys-Dietz Syndrome
Thoracic Aortic Aneurysm and Dissection Syndromes
Ehlers-Danlos Type IV Syndrome
Turner Syndrome
Keywords: aortopathy syndrome
aortic aneurysm
aortic dissection
connective tissue disorder
Lead sponsor: University of Colorado, Denver
Sponsor class: OTHER
First posted: 2014-08-11
Enrollment: 20
Sex: ALL
Minimum age (years): 30
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All individuals up to 60 years seen in the Children's Hospital of Colorado and University Hospital Marfan Syndrome Clinics will be eligible for enrollment in this study. Individuals with a clinical diagnosis of Marfan syndrome with or without genetic confirmation will be included as will patients with recognized aortopathy syndromes or family history of aortopathy with evidence of aorta disease. Subjects will be primarily recruited through the Heart Institute at Children's Hospital Colorado and through the cardiology team at the University of Colorado Hospital. Pediatric patients with Marfan syndrome and related aortopathy syndromes are primarily followed in the Principal Investigator, Dr. Chatfield's, Cardiac Genetics Clinic at Children's Hospital Colorado and will be recruited from this clinic. Adult patients with aortopathy syndromes are followed primarily in the Adult Congenital Heart Disease Clinic at University of Colorado Hospital.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Plasma miRNA profiling in individuals with Marfan syndrome
timeFrame: 2 years
measure: Plasma miRNA profiling in individuals with aortopathy syndromes
timeFrame: 3 years
Secondary outcomes:
measure: Correlation of plasma miRNA profiles with aortic dimensions
timeFrame: 2 years
Other outcomes:
measure: Correlation of plasma miRNA with progression of aortic aneurysm
timeFrame: 5 years
Locations:
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Aurora
country: United States
facility: University of Colorado Hospital
state: Colorado
Study officials:
affiliation: University of Colorado Denver, Children's Hospital Colorado
name: Kathryn C Chatfield, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: