Development of a Blood Test for Marfan Syndrome



Status:Recruiting
Conditions:Neurology, Orthopedic
Therapuetic Areas:Neurology, Orthopedics / Podiatry
Healthy:No
Age Range:4 - 26
Updated:1/6/2017
Start Date:May 2013
End Date:December 2017
Contact:Lynn Y. Sakai, Ph.D.
Email:lys@shcc.org
Phone:503-221-3436

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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.

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.

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
We found this trial at
5
sites
3181 Southwest Sam Jackson Park Road
Portland, Oregon 97239
503 494-8311
Phone: 503-494-4305
Oregon Health and Science University In 1887, the inaugural class of the University of Oregon...
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Chicago, Illinois 60611
Principal Investigator: Joseph Camarda, MD
Phone: 312-227-1549
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Chicago, IL
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Houston, Texas 77030
Phone: 713-500-5764
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Houston, TX
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Omaha, Nebraska 68198
Phone: 402-955-4322
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Omaha, NE
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Portland, Oregon 97239
Principal Investigator: Lynn Y. Sakai, Ph.D.
Phone: 503-221-3436
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Portland, OR
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