Skip to main content
OpenTrials
Completed

NCT Number: NCT05944614

Towards Optimal Treatment of Marfan Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Marfan Syndrome Abnormalities, Multiple Aortic Diseases Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Musculoskeletal Diseases Skin and Connective Tissue Diseases Vascular Diseases

Age range

18 year–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Radboud University Medical Center, Nijmegen, Gelderland, Netherlands

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Magnetic Resonance imaging (MRI) examination

Other

3D CINE and 4 dimensional (4D) flow MRI sequence

Primary outcomes

  1. Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers.

    Time frame: 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.

  2. Difference in pulse wave velocity, in meters per second between Marfan patients and healthy volunteers.

    Time frame: 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

  3. Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta, range between 0 - 0.5 (No normal values defined), higher is worse

  4. Change in aortic displacement expressed in millimeters , between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.

    Time frame: 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

  5. Change in aortic pulse wave velocity (meters/second), between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.

    Time frame: 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.

  6. Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery.

    Time frame: Change from baseline to 6 months after surgery

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse range between 0 -5.

Secondary outcomes

  1. Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta

    Time frame: Baseline

    aortic displacement in the thoracic aorta, lower is worse. operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters

  2. Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm

    Time frame: Baseline

    aortic displacement in the thoracic aorta, lower is worse. Normal values unknown.

  3. Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation

    Time frame: Baseline

    aortic displacement in the thoracic aorta. Lower is worse. Normal values unknown.

  4. Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients

    Time frame: Baseline

    aortic displacement in the thoracic aorta,Lower is worse. Normal values unknown.

  5. Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used

    Time frame: Baseline

    aortic displacement in the thoracic aorta, Lower is worse. Normal values unknown.

  6. Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta

    Time frame: 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

  7. Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm

    Time frame: Baseline

    pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown.

  8. Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation

    Time frame: Baseline

    pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown.

  9. Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients

    Time frame: Baseline

    pulse wave velocity expressed in m/s in the thoracic aorta Higher is worse. Normal values unknown.

  10. Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used

    Time frame: Baseline

    pulse wave velocity expressed in m/s in the thoracic aorta

  11. Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.

  12. Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.

  13. Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.

  14. Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.

  15. Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used

    Time frame: Baseline

    oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown.

  16. The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients.

    Time frame: 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. .

Sponsors and collaborators

Lead sponsor

Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Other

Collaborators

  • Netherlands Organisation for Scientific Research

Registry information

Acronym: TOWER

Important dates

Study start
2023
Primary completion
2025
Study completion
2025
First posted
Jul 13, 2023
Registry last updated
Jul 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.