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

Turner Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02213484
• Other study ID #: 14-0567
• Secondary ID: UL1TR001082
• Status: Completed
• Phase: N/A
• First received: August 7, 2014
• Last updated: March 14, 2017
• Start date: July 1, 2014
• Est. completion date: July 1, 2016

Study information

• Verified date: March 2017
• Source: University of Colorado, Denver
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: July 1, 2016
• Est. primary completion date: July 1, 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 60 Years

Eligibility

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

Related Conditions & MeSH terms

• Aneurysm
• Aortic Aneurysm
• Aortic Aneurysm, Thoracic
• Ehlers-Danlos Type IV Syndrome
• Gonadal Dysgenesis
• Loeys-Dietz Syndrome
• Marfan Syndrome
• Primary Ovarian Insufficiency
• Syndrome
• Thoracic Aortic Aneurysm and Dissection Syndromes
• Turner Syndrome

Locations

Country	Name	City	State
United States	Children's Hospital Colorado	Aurora	Colorado
United States	University of Colorado Hospital	Aurora	Colorado

Sponsors (1)

Lead Sponsor	Collaborator
University of Colorado, Denver

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Correlation of plasma miRNA with progression of aortic aneurysm	Correlate miRNA patterns with changes in aortic dimension and Z-score longitudinally at yearly time points.	5 years
Primary	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
Primary	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	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