Clinical trial NCT05944614: Towards Optimal Treatment of Marfan Syndrome
Official title: Towards Optimal Treatment of Marfan Syndrome
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Marfan Syndrome
Keywords: Magnetic Resonance Imaging
Aortic disease
Lead sponsor: Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Sponsor class: OTHER
Collaborators: name: Netherlands Organisation for Scientific Research
First posted: 2023-07-13
Enrollment: 150
Sex: ALL
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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.

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.


Eligibility criteria: Inclusion Criteria:

* MFS patients with a known FBN1 mutation
* Between 18-50 years of age

Exclusion Criteria:

* Contraindication for MR imaging
* Mental retardation
* Pregnancy, or planned pregnancy during study period

Additional exclusion criteria healthy controls:

- History of aorta disease

Primary outcomes:
measure: Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers.
timeFrame: Baseline
measure: Difference in pulse wave velocity, in meters per second between Marfan patients and healthy volunteers.
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers
timeFrame: Baseline
measure: Change in aortic displacement expressed in millimeters , between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.
timeFrame: Change from baseline to 6 months after surgery
measure: Change in aortic pulse wave velocity (meters/second), between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.
timeFrame: Change from baseline to 6 months after surgery
measure: Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.
timeFrame: Change from baseline to 6 months after surgery
Secondary outcomes:
measure: Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta
timeFrame: Baseline
measure: Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm
timeFrame: Baseline
measure: Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation
timeFrame: Baseline
measure: Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients
timeFrame: Baseline
measure: Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used
timeFrame: Baseline
measure: Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta
timeFrame: Baseline
measure: Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm
timeFrame: Baseline
measure: Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation
timeFrame: Baseline
measure: Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients
timeFrame: Baseline
measure: Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients
timeFrame: Baseline
measure: Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used
timeFrame: Baseline
measure: The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients.
timeFrame: Baseline MRI with aortic surgery tissue
Other outcomes:
Locations:
city: Nijmegen
country: Netherlands
facility: Radboud University Medical Center
state: Gelderland
city: Amsterdam
country: Netherlands
facility: Amsterdam UMC, location AMC
state: Meibergdreef 9
city: Leiden
country: Netherlands
facility: Leiden University Medical Center
state: Noord-Holland
city: Groningen
country: Netherlands
facility: University Medical Center Groningen
Study officials:
affiliation: Amsterdam UMC
name: Pim Ooij, PhD
role: PRINCIPAL_INVESTIGATOR
References: