Development of a Blood Test for Marfan Syndrome

Marfan Syndrome Clinical Trial

Official title:

Development of a Blood Test for Marfan Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02148900
• Other study ID #: 79135
• Status: Recruiting
• Phase: N/A
• First received: May 23, 2014
• Last updated: January 4, 2017
• Start date: May 2013
• Est. completion date: December 2017

Study information

• Verified date: January 2017
• Source: Shriners Hospitals for Children
• Contact: Lynn Y. Sakai, Ph.D.
• Phone: 503-221-3436
• Email: lys[@]shcc.org
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational [Patient Registry]

Clinical 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 336
• Est. completion date: December 2017
• Est. primary completion date: December 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 4 Years to 26 Years

Eligibility

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 Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Control Subjects
• Marfan Related Disorders
• Marfan Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Lurie Childrens Hospital	Chicago	Illinois
United States	University of Texas at Houston	Houston	Texas
United States	University of Nebraska	Omaha	Nebraska
United States	Oregon Health & Science University	Portland	Oregon
United States	Shriners Hospital for Children	Portland	Oregon

Sponsors (4)

Lead Sponsor	Collaborator
Shriners Hospitals for Children	Oregon Health and Science University, The University of Texas Health Science Center, Houston, University of Utah

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	medical and lifestyle issues	Information from questionnaires will be associated with aortic root growth and concentrations of circulating microfibril fragments.	yearly for five years	No
Primary	microfibril fragments	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	No
Secondary	Aortic root growth	Aortic root growth will be correlated with concentrations of circulating microfibril fragments.	yearly for five years	No