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

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:
        • 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

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.

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

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.

Clinical Trials on Marfan Syndrome

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