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

March 14, 2017 updated by: University of Colorado, Denver
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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Children's Hospital Colorado
      • Aurora, Colorado, United States, 80045
        • University Of Colorado Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 month to 60 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Marfan syndrome
Individuals with a clinical diagnosis of Marfan syndrome
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
2 years
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.
3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
2 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Colorado, Denver

Investigators

  • Principal Investigator: Kathryn C Chatfield, MD, PhD, University of Colorado Denver, Children's Hospital Colorado

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2014

Primary Completion (Actual)

July 1, 2016

Study Completion (Actual)

July 1, 2016

Study Registration Dates

First Submitted

August 7, 2014

First Submitted That Met QC Criteria

August 8, 2014

First Posted (Estimate)

August 11, 2014

Study Record Updates

Last Update Posted (Actual)

March 15, 2017

Last Update Submitted That Met QC Criteria

March 14, 2017

Last Verified

March 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14-0567
  • UL1TR001082 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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