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

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • 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

  • United States
    • 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:
        • Contact:
        • Sub-Investigator:
          • Angela Yetman, MD
    • Oregon
      • Portland, Oregon, United States, 97239
        • Recruiting
        • Oregon Health & Science University
        • Contact:
        • 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

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

2 months to 22 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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Shriners Hospitals for Children

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
The University of Texas Health Science Center, Houston
Oregon Health and Science University
University of Utah

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
May 1, 2013

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 1, 2017

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 1, 2017

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 23, 2014

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 27, 2014

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 28, 2014

Study Record Updates

Last Update Posted (Estimate)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 5, 2017

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 4, 2017

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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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