Towards Optimal Treatment of Marfan Syndrome (TOWER)

July 1, 2025 updated by: Dr. Ir. Pim van Ooij, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
148

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • Netherlands
      • Amsterdam, Netherlands, 1105 AZ
        • Amsterdam UMC, location AMC
      • Groningen, Netherlands, 9713 GZ
        • University Medical Center Groningen
    • Gelderland
      • Nijmegen, Gelderland, Netherlands, 6525 GA
        • Radboud University Medical Center
    • Noord-Holland
      • Leiden, Noord-Holland, Netherlands, 2333 ZA
        • Leiden University Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

Yes

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Marfan Syndrome patients
Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation
Other: Magnetic Resonance imaging (MRI) examination
3D CINE and 4 dimensional (4D) flow MRI sequence
Healthy volunteers
Age and gender matched healthy control patients without a history of aortic disease.
Other: Magnetic Resonance imaging (MRI) examination
3D CINE and 4 dimensional (4D) flow MRI sequence

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
Baseline
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
Baseline
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
Baseline
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
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.
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.
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.
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.
Change from baseline to 6 months after surgery

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
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
Baseline
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.
Baseline
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.
Baseline
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.
Baseline
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.
Baseline
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
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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
Time Frame: Baseline
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.
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. .
Baseline MRI with aortic surgery tissue

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Netherlands Organisation for Scientific Research

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Pim Ooij, PhD, Amsterdam UMC

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 23, 2023

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 16, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 16, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
June 28, 2023

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 6, 2023

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 13, 2023

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 3, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 1, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • NL82669.018.22

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Individual participant data will not be shared

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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