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

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ClinicalTrials.gov Identifier: NCT02213484
Recruitment Status : Completed
First Posted : August 11, 2014
Last Update Posted : March 15, 2017
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver

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.

Condition or disease
Marfan Syndrome Loeys-Dietz Syndrome Thoracic Aortic Aneurysm and Dissection Syndromes Ehlers-Danlos Type IV Syndrome Turner Syndrome

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Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Actual Study Start Date : July 1, 2014
Actual Primary Completion Date : July 1, 2016
Actual Study Completion Date : July 1, 2016


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.



Primary Outcome Measures :
  1. 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. 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 Outcome Measures :
  1. 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 Outcome Measures:
  1. 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.


Biospecimen Retention:   Samples With DNA
Fractionated blood samples will be retained at a part of the study including plasma, platelets and mononuclear cells. At this time genetic testing (genotyping) of individual biospecimens is not included in the IRB-approved protocol.


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02213484


Locations
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United States, Colorado
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
University of Colorado Hospital
Aurora, Colorado, United States, 80045
Sponsors and Collaborators
University of Colorado, Denver
Investigators
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Principal Investigator: Kathryn C Chatfield, MD, PhD University of Colorado Denver, Children's Hospital Colorado

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Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT02213484     History of Changes
Other Study ID Numbers: 14-0567
UL1TR001082 ( U.S. NIH Grant/Contract )
First Posted: August 11, 2014    Key Record Dates
Last Update Posted: March 15, 2017
Last Verified: March 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of Colorado, Denver:
aortopathy syndrome
aortic aneurysm
aortic dissection
connective tissue disorder
Additional relevant MeSH terms:
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Marfan Syndrome
Arachnodactyly
Loeys-Dietz Syndrome
Turner Syndrome
Aneurysm
Aortic Aneurysm
Aortic Aneurysm, Thoracic
Syndrome
Disease
Pathologic Processes
Vascular Diseases
Cardiovascular Diseases
Aortic Diseases
Gonadal Dysgenesis
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Abnormalities, Multiple