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| ID | Type | Description | Link |
|---|---|---|---|
| UL1TR001082 | U.S. NIH Grant/Contract | View source |
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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
Inclusion Criteria: To be in the study, the participant must meet the following criteria
Diagnosis of hereditary aortopathy based upon:
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
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Kathryn C Chatfield, MD, PhD | University of Colorado Denver, Children's Hospital Colorado | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Colorado | Aurora | Colorado | 80045 | United States | ||
| University of Colorado Hospital |
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| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| D055947 | Loeys-Dietz Syndrome |
| D017545 | Aortic Aneurysm, Thoracic |
| D000094623 | Ehlers-Danlos Syndrome, Type IV |
| D014424 | Turner Syndrome |
| D001014 | Aortic Aneurysm |
| D000784 | Aortic Dissection |
| D003240 | Connective Tissue Diseases |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
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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.
| Aurora |
| Colorado |
| 80045 |
| United States |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D017437 | Skin and Connective Tissue Diseases |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D001018 | Aortic Diseases |
| D000094665 | Dissection, Blood Vessel |
| D004535 | Ehlers-Danlos Syndrome |
| D020141 | Hemostatic Disorders |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D003095 | Collagen Diseases |
| D012871 | Skin Diseases |
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D000094683 | Acute Aortic Syndrome |