- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02148900
Development of a Blood Test for Marfan Syndrome
January 4, 2017 updated by: Lynn Y. Sakai, Ph.D., Shriners Hospitals for Children
The objective of this study is to determine whether a simple blood test can be a useful clinical tool for monitoring aortic disease in Marfan syndrome and Marfan-related disorders.
Study Overview
Status
Unknown
Detailed Description
The primary objective of this study is to determine whether increased quantitites of circulating microfibril fragments, measured with a simple blood test, are associated with aortic root size and increased growth of the aortic root in Marfan syndrome and related disorders.
The secondary objectives of this study are to: (1) Determine a Marfan "signature" profile of circulating microfibril fragments.
(2) Determine if high concentrations of fibrillin-1 fragments are associated with large aortic root diameters.
(3) Determine which fibrillin-1 fragments are good biomarkers for aortic root growth and size in Marfan syndrome.
(4) Determine the relation between fibrillin-1, aortic root diameter, and medical and lifestyle factors reported on questionnaires.
Study Type
Observational
Enrollment (Anticipated)
336
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Lynn Y. Sakai, Ph.D.
- Phone Number: 503-221-3436
- Email: lys@shcc.org
Study Contact Backup
- Name: Susan Sienko, Ph.D.
- Phone Number: 503-221-3481
- Email: sst@shcc.org
Study Locations
-
-
Illinois
-
Chicago, Illinois, United States, 60611-2605
- Recruiting
- Lurie Childrens Hospital
-
Principal Investigator:
- Joseph Camarda, MD
-
-
Nebraska
-
Omaha, Nebraska, United States, 68114
- Recruiting
- University of Nebraska
-
Contact:
- Angela Yetman, MD
- Phone Number: 402-955-4322
- Email: ayetman@childrensomaha.org
-
Contact:
- Sara Warta
- Phone Number: 402-559-6256
- Email: sara.warta@unmc.edu
-
Sub-Investigator:
- Angela Yetman, MD
-
-
Oregon
-
Portland, Oregon, United States, 97239
- Recruiting
- Oregon Health & Science University
-
Contact:
- Kathryn Holmes, MD, MPH
- Phone Number: 503-494-4305
- Email: holmesk@ohsu.edu
-
Contact:
- Abigail Hata, MS
- Phone Number: 503-418-1061
- Email: hata@ohsu.edu
-
Sub-Investigator:
- Kathyn Holmes, MD, MPH
-
Portland, Oregon, United States, 97239
- Recruiting
- Shriners Hospital for Children
-
Contact:
- Lynn Y. Sakai, Ph.D.
- Phone Number: 503-221-3436
- Email: lys@shcc.org
-
Contact:
- Susan Sienko, Ph.D.
- Phone Number: 503-221-3481
- Email: sst@shcc.org
-
Principal Investigator:
- Lynn Y. Sakai, Ph.D.
-
-
Texas
-
Houston, Texas, United States, 77030
- Recruiting
- University of Texas at Houston
-
Contact:
- Jacqueline T. Hecht, Ph.D.
- Phone Number: 713-500-5764
- Email: jacqueline.t.hecht@uth.tmc.edu
-
Contact:
- Elena Serna
- Phone Number: 713-500-5785
- Email: maria.e.serna@uth.tmc.edu
-
Sub-Investigator:
- Jacqueline T. Hecht, Ph.D.
-
-
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
2 years to 24 years (Child, Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Probability Sample
Study Population
The study population includes 3 groups: (1) individuals with Marfan syndrome; (2) individuals with Marfan-related disorders; (3) unaffected controls.
Both genders, ages 4 to 26, will be included.
Geographic locations will include the Pacific Northwest, Texas, and the Salt Lake City/Denver areas.
Description
Inclusion Criteria:
- Age 4-26 years of age for all participants
- Diagnosis of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Familial Thoracic Aortic Aneurysm and Dissection for inclusion in Marfan and Marfan-related disorders groups
- Diagnosis of unaffected by Marfan syndrome and Marfan-related disorders for inclusion in control group
- Able and willing to sign informed consent/assent
- Signed HIPPA compliant research authorization
Exclusion Criteria:
- Other known cardiovascular disorder for unaffected controls
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: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
---|
Marfan
Diagnosis of Marfan syndrome, according to Ghent criteria.
|
Marfan Related Disorders
Diagnosis of Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Familial Thoracic Aortic Aneurysm and Dissection.
|
Control Subjects
Unaffected by Marfan or Marfan related disorders.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
microfibril fragments
Time Frame: measured yearly over 5 years
|
Plasma will be tested using sandwich ELISAs and standard curves to quantitate fragments of fibrillin-1, fibrillin-2, and fibulin-4.
|
measured yearly over 5 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Aortic root growth
Time Frame: yearly for five years
|
Aortic root growth will be correlated with concentrations of circulating microfibril fragments.
|
yearly for five years
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
medical and lifestyle issues
Time Frame: yearly for five years
|
Information from questionnaires will be associated with aortic root growth and concentrations of circulating microfibril fragments.
|
yearly for five years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Investigators
- Principal Investigator: Lynn Y. Sakai, Ph.D., Shriners Hospitals for Children
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
May 1, 2013
Primary Completion (Anticipated)
December 1, 2017
Study Completion (Anticipated)
December 1, 2017
Study Registration Dates
First Submitted
May 23, 2014
First Submitted That Met QC Criteria
May 27, 2014
First Posted (Estimate)
May 28, 2014
Study Record Updates
Last Update Posted (Estimate)
January 5, 2017
Last Update Submitted That Met QC Criteria
January 4, 2017
Last Verified
January 1, 2017
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Connective Tissue Diseases
- Bone Diseases
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Limb Deformities, Congenital
- Syndrome
- Marfan Syndrome
- Arachnodactyly
Other Study ID Numbers
- 79135
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
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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