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| Name | Class |
|---|---|
| Netherlands Organisation for Scientific Research | OTHER_GOV |
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The purpose of this study is to determine whether new magnetic resonance imaging techniques can be used as a biomarker of aortic disease severity in patients with Marfan syndrome.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Marfan Syndrome patients | Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation |
| |
| Healthy volunteers | Age and gender matched healthy control patients without a history of aortic disease. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Magnetic Resonance imaging (MRI) examination | Other | 3D CINE and 4 dimensional (4D) flow MRI sequence |
|
| Measure | Description | Time Frame |
|---|---|---|
| Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers. | aortic displacement in the thoracic aorta. normal values unknown, but single paper: Marfan patients range: 1.77 to 10.03 millimeters, volunteers 7.34 ± 1.69 millimeters. lower is worse. | Baseline |
| Difference in pulse wave velocity, in meters per second between Marfan patients and healthy volunteers. | pulse wave velocity expressed in m/s in the thoracic aorta, normal values age dependent: but range +/- 4 - 30 m/s, higher is worse | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers | oscillatory shear index (dimensionless) in the thoracic aorta, range between 0 - 0.5 (No normal values defined), higher is worse | Baseline |
| Change in aortic displacement expressed in millimeters , between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | aortic displacement expressed in millimeters in the thoracic aorta. Pre-post change unknown, however operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters. Lower is worse | Change from baseline to 6 months after surgery |
| Change in aortic pulse wave velocity (meters/second), between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | pulse wave velocity in the thoracic aorta expressed in meters/second. Higher is worse. normal values for change unknown. | Change from baseline to 6 months after surgery |
| Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. |
| Measure | Description | Time Frame |
|---|---|---|
| Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta | aortic displacement in the thoracic aorta, lower is worse. operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters | Baseline |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm |
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Inclusion Criteria:
Exclusion Criteria:
Additional exclusion criteria healthy controls:
- History of aorta disease
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All Marfan syndrome patients age 18-50 with a known FBN1 mutation are eligeble for participation. Only patients who are unable to undergo an MRI examination are excluded.
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| Name | Affiliation | Role |
|---|---|---|
| Pim Ooij, PhD | Amsterdam UMC | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Radboud University Medical Center | Nijmegen | Gelderland | 6525 GA | Netherlands | ||
| Leiden University Medical Center |
Individual participant data will not be shared
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| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| D001018 | Aortic Diseases |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
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| ID | Term |
|---|---|
| D009682 | Magnetic Resonance Spectroscopy |
| D012149 | Restraint, Physical |
| ID | Term |
|---|---|
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
| D032763 | Behavior Control |
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Aortic tissue acquired during aorta surgery
oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse range between 0 -5. |
| Change from baseline to 6 months after surgery |
aortic displacement in the thoracic aorta, lower is worse. Normal values unknown. |
| Baseline |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | aortic displacement in the thoracic aorta. Lower is worse. Normal values unknown. | Baseline |
| Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients | aortic displacement in the thoracic aorta,Lower is worse. Normal values unknown. | Baseline |
| Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used | aortic displacement in the thoracic aorta, Lower is worse. Normal values unknown. | Baseline |
| Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta | pulse wave velocity expressed in m/s in the thoracic aorta, Lower is worse. Normal values unknown. Single study in general aneurysm population: pre surgery: 18.0 +/-4.0 meters per second post surgery 20.6 +/- 6.0 meters per second. higher is worse | Baseline |
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm | pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation | pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients | pulse wave velocity expressed in m/s in the thoracic aorta Higher is worse. Normal values unknown. | Baseline |
| Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. | Baseline |
| The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients. | Correlation of locally MRI measured wall shear stress and histologic findings in the thoracic aorta. Neither is worse. Normal values dependent on location of measurement, exploratory outcome. . | Baseline MRI with aortic surgery tissue |
| Leiden |
| North Holland |
| 2333 ZA |
| Netherlands |
| Amsterdam UMC, location AMC | Amsterdam | 1105 AZ | Netherlands |
| University Medical Center Groningen | Groningen | 9713 GZ | Netherlands |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D014652 | Vascular Diseases |
| D013812 | Therapeutics |
| D007103 | Immobilization |