Marfan SyndromeNCT02213484
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
An observational study of Marfan Syndrome and Loeys-Dietz Syndrome, run by University of Colorado, Denver at 2 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 30 days to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes
- Type of treatment
- Injection or infusion
- How many people
- 20 participants
- Where
- 2 sitesUnited States
- Study dates
- 1 Jul 2014to 1 Jul 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 30 days to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Inclusion Criteria: To be in the study, the participant must meet the following criteria
- 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
- 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
- Diagnosis of a hereditary aortopathy can not be confirmed
- 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.
- Extreme prematurity, <28 weeks gestational age
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
University of Colorado Hospital
Aurora, Colorado, 80045
About this study
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.
- 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
- Medical subject headings
- Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm, Thoracic, Ehlers-Danlos Syndrome, Type IV, Turner Syndrome, Aortic Aneurysm, Aortic Dissection, Connective Tissue Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 3 years
Secondary outcomes (1)
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2014 (estimated)
- Study start1 Jul 2014
- Primary completion1 Jul 2016
- Study completion1 Jul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Kathryn C Chatfield, MD, PhD, Principal investigator, University of Colorado Denver, Children's Hospital Colorado
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02213484
- Sponsor's protocol ID
- 14-0567
- Other IDs
- UL1TR001082
- Status last verified
- Mar 2017
- First submitted
- 7 Aug 2014
- Last updated
- 15 Mar 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Mar 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
- ClinicalTrials.gov ID
- NCT02213484
- Acronym / sponsor ID
- 14-0567
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Study start
- 1 Jul 2014 (actual)
- Primary completion
- 1 Jul 2016 (actual)
- Study completion
- 1 Jul 2016 (actual)
- First posted
- 11 Aug 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 30 days to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
1 secondary outcome
Correlation of plasma miRNA profiles with aortic dimensions
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Mar 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kathryn C Chatfield, MD, PhD principal investigator
University of Colorado Denver, Children's Hospital Colorado
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome and Loeys-Dietz Syndrome, run by University of Colorado, Denver at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Mar 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma miRNA profiling in individuals with Marfan syndrome (time frame: 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Mar 2017.