Towards Optimal Treatment of Marfan Syndrome
- Conditions
- Marfan Syndrome
- Interventions
- Other: Magnetic Resonance imaging (MRI) examination
- Registration Number
- NCT05944614
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 150
- MFS patients with a known FBN1 mutation
- Between 18-50 years of age
- Contraindication for MR imaging
- Mental retardation
- Pregnancy, or planned pregnancy during study period
Additional exclusion criteria healthy controls:
- History of aorta disease
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Healthy volunteers Magnetic Resonance imaging (MRI) examination Age and gender matched healthy control patients without a history of aortic disease. Marfan Syndrome patients Magnetic Resonance imaging (MRI) examination Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation
- Primary Outcome Measures
Name Time Method Difference in pulse wave velocity, in meters per second between Marfan patients and healthy volunteers. Baseline pulse wave velocity expressed in m/s in the thoracic aorta, normal values age dependent: but range +/- 4 - 30 m/s, higher is worse
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers Baseline oscillatory shear index (dimensionless) in the thoracic aorta, range between 0 - 0.5 (No normal values defined), higher is worse
Change in aortic pulse wave velocity (meters/second), between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. Change from baseline to 6 months after surgery pulse wave velocity in the thoracic aorta expressed in meters/second. Higher is worse. normal values for change unknown.
Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. Change from baseline to 6 months after surgery oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse range between 0 -5.
Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers. Baseline 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.
Change in aortic displacement expressed in millimeters , between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. Change from baseline to 6 months after 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
- Secondary Outcome Measures
Name Time Method Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm Baseline pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown.
Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used Baseline aortic displacement in the thoracic aorta, Lower is worse. Normal values unknown.
Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta Baseline 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
Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used Baseline pulse wave velocity expressed in m/s in the thoracic aorta
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta Baseline oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.
Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta Baseline aortic displacement in the thoracic aorta, lower is worse. operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters
Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients Baseline aortic displacement in the thoracic aorta,Lower is worse. Normal values unknown.
Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm Baseline aortic displacement in the thoracic aorta, lower is worse. Normal values unknown.
Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation Baseline aortic displacement in the thoracic aorta. Lower is worse. Normal values unknown.
Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation Baseline pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown.
Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients Baseline oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used Baseline oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.
The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients. Baseline MRI with aortic surgery tissue 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. .
Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients Baseline pulse wave velocity expressed in m/s in the thoracic aorta Higher is worse. Normal values unknown.
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm Baseline oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation Baseline oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.
Trial Locations
- Locations (4)
Amsterdam UMC, location AMC
🇳🇱Amsterdam, Meibergdreef 9, Netherlands
Radboud University Medical Center
🇳🇱Nijmegen, Gelderland, Netherlands
University Medical Center Groningen
🇳🇱Groningen, Netherlands
Leiden University Medical Center
🇳🇱Leiden, Noord-Holland, Netherlands