Clinical trial NCT02148900: Development of a Blood Test for Marfan Syndrome
Official title: Development of a Blood Test for Marfan Syndrome
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Marfan Syndrome
Marfan Related Disorders
Control Subjects
Keywords: Marfan syndrome
blood test
aortic root size
Marfan related disorders
Lead sponsor: Shriners Hospitals for Children
Sponsor class: OTHER
Collaborators: name: Oregon Health and Science University
name: University of Utah
name: The University of Texas Health Science Center, Houston
First posted: 2014-05-28
Enrollment: 336
Sex: ALL
Minimum age (years): 4
Maximum age (years): 26
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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.

Brief 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: microfibril fragments
timeFrame: measured yearly over 5 years
Secondary outcomes:
measure: Aortic root growth
timeFrame: yearly for five years
Other outcomes:
measure: medical and lifestyle issues
timeFrame: yearly for five years
Locations:
city: Chicago
country: United States
facility: Lurie Childrens Hospital
state: Illinois
city: Omaha
country: United States
facility: University of Nebraska
state: Nebraska
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
city: Portland
country: United States
facility: Shriners Hospital for Children
state: Oregon
city: Houston
country: United States
facility: University of Texas at Houston
state: Texas
Study officials:
affiliation: Shriners Hospitals for Children
name: Lynn Y. Sakai, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: