Marfan SyndromeNCT02148900
Development of a Blood Test for Marfan Syndrome
An observational study of Marfan Syndrome and Marfan Related Disorders, run by Shriners Hospitals for Children at 5 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 4 to 26 yearsHealthy volunteers can take part
- Conditions the study is for
- Marfan Syndrome, Marfan Related Disorders, Control Subjects
- How many people
- 336 participants
- Where
- 5 sitesUnited States
- Study dates
- May 2013to Dec 2017
- How long will I take part?
- 5 Years
- 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 4 to 26 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- 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
Who cannot join
- Other known cardiovascular disorder for unaffected controls
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites, 5 recruiting
- Recruiting
Lurie Childrens Hospital
Chicago, Illinois, 60611-2605
Kathleen Van't Hof, 312-227-1549, kvanthof@luriechildrens.org
Joseph Camarda, MD
- Recruiting
University of Texas at Houston
Houston, Texas, 77030
Jacqueline T. Hecht, Ph.D., 713-500-5764, jacqueline.t.hecht@uth.tmc.edu
Elena Serna, 713-500-5785, maria.e.serna@uth.tmc.edu
- Recruiting
University of Nebraska
Omaha, Nebraska, 68114
Angela Yetman, MD, 402-955-4322, ayetman@childrensomaha.org
Sara Warta, 402-559-6256, sara.warta@unmc.edu
- Recruiting
Oregon Health & Science University
Portland, Oregon, 97239
Kathryn Holmes, MD, MPH, 503-494-4305, holmesk@ohsu.edu
Abigail Hata, MS, 503-418-1061, hata@ohsu.edu
- Recruiting
Shriners Hospital for Children
Portland, Oregon, 97239
Lynn Y. Sakai, Ph.D., 503-221-3436, lys@shcc.org
Susan Sienko, Ph.D., 503-221-3481, sst@shcc.org
About this study
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.
Read the 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.
- Conditions
- Marfan Syndrome, Marfan Related Disorders, Control Subjects
- Keywords
- Marfan syndrome, blood test, aortic root size, Marfan related disorders
- Medical subject headings
- Marfan Syndrome
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 | 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 being measured
The primary outcome is the main question the study is designed to answer.
microfibril fragments
Plasma will be tested using sandwich ELISAs and standard curves to quantitate fragments of fibrillin-1, fibrillin-2, and fibulin-4.
Measured: measured yearly over 5 years
Secondary outcomes (1)
Aortic root growth
Aortic root growth will be correlated with concentrations of circulating microfibril fragments.
Measured: yearly for five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2014 (estimated)
- Study startMay 2013
- Primary completionDec 2017 (estimated)
- Study completionDec 2017 (estimated)
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.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 336 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Shriners Hospitals for Children
- Sponsor type
- University, hospital or other
- Collaborators
- Oregon Health and Science University, University of Utah, The University of Texas Health Science Center, Houston
- Responsible party
- Principal investigator, Lynn Y. Sakai, Ph.D., Shriners Hospitals for Children
- Investigators
- Lynn Y. Sakai, Ph.D., Principal investigator, Shriners Hospitals for Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02148900
- Sponsor's protocol ID
- 79135
- Status last verified
- Jan 2017
- First submitted
- 23 May 2014
- Last updated
- 5 Jan 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Jan 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of a Blood Test for Marfan Syndrome
- ClinicalTrials.gov ID
- NCT02148900
- Acronym / sponsor ID
- 79135
- Conditions
- Marfan Syndrome, Marfan Related Disorders, Control Subjects
- Keywords
- Marfan syndrome, blood test, aortic root size, Marfan related disorders
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 336 participants (estimated)
- Lead sponsor
- Shriners Hospitals for ChildrenUniversity, hospital or other
- Collaborators
- Oregon Health and Science University, University of Utah, The University of Texas Health Science Center, Houston
- Study start
- May 2013
- Primary completion
- Dec 2017 (estimated)
- Study completion
- Dec 2017 (estimated)
- First posted
- 28 May 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 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.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 4 to 26 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- Other known cardiovascular disorder for unaffected controls
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
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.
1 secondary outcome
Aortic root growth
Time frame: yearly for five years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jan 2017.
- Individual participant dataSharing planned: No
Related trials for Marfan Syndrome
RecruitingObservational study
Asprosin and miRNA Expression in Young Women With Metabolic Syndrome
Metabolic Syndrome, Insulin Resistance
Enrolling by invitationObservational study
Advanced Ultrasound Signal Processing of Suspicious Breast Images
Breast Cancer, Breast Cyst
RecruitingObservational study
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
Vascular Anomaly, Osler Rendu Disease
Not yet recruitingObservational study
Asprosin in Behect Patients
Behcet Disease
Not yet recruitingObservational study
Serum Asprosin, Metabolic Syndrome, and Cardiometabolic Risk in Rheumatoid Arthritis
Rheumatoid Arthritis, Metabolic Syndrome
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.
Lynn Y. Sakai, Ph.D. principal investigator
Shriners Hospitals for Children
5 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 Marfan Related Disorders, run by Shriners Hospitals for Children at 5 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?
The sponsor lists 5 inclusion and 1 exclusion criteria. 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: status not confirmed, as of the sponsor's last update on 5 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Lynn Y. Sakai, Ph.D. (503-221-3436, lys@shcc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
microfibril fragments (time frame: measured yearly over 5 years). 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 5 Jan 2017.