Marfan SyndromeTOWERNCT05944614
Towards Optimal Treatment of Marfan Syndrome
An observational study of Marfan Syndrome, run by Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) at 4 sites in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 50 yearsHealthy volunteers can take part
- Conditions the study is for
- Marfan Syndrome
- What is being tested?
- Magnetic Resonance imaging (MRI) examination
- How many people
- 148 participants
- Where
- 4 sitesNetherlands
- Study dates
- 23 Feb 2023to 16 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 50 years
- All sexes
- Healthy volunteers accepted
- Adult
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.
Who may be able to join
- MFS patients with a known FBN1 mutation
- Between 18-50 years of age
Who cannot join
- Contraindication for MR imaging
- Mental retardation
- Pregnancy, or planned pregnancy during study period
- Additional exclusion criteria healthy controls:
- History of aorta disease
Trial locations and contacts
4 sites in 1 country.
Netherlands4 sites
Amsterdam UMC, location AMC
Amsterdam, 1105 AZ
University Medical Center Groningen
Groningen, 9713 GZ
Leiden University Medical Center
Leiden, North Holland, 2333 ZA
Radboud University Medical Center
Nijmegen, Gelderland, 6525 GA
About this study
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.
- Conditions
- Marfan Syndrome
- Being tested
- Magnetic Resonance imaging (MRI) examination
- Keywords
- Magnetic Resonance Imaging, Aortic disease
- Medical subject headings
- Marfan Syndrome, Aortic Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Magnetic Resonance imaging (MRI) examinationOther
3D CINE and 4 dimensional (4D) flow MRI sequence
| Study group | Role | What they receive |
|---|---|---|
| Marfan Syndrome patients | Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation Receives: Other: Magnetic Resonance imaging (MRI) examination | |
| Healthy volunteers | Age and gender matched healthy control patients without a history of aortic disease. Receives: Other: Magnetic Resonance imaging (MRI) examination |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: 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
Measured: 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
Measured: 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.
Measured: 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.
oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse range between 0 -5.
Measured: Change from baseline to 6 months after surgery
Secondary outcomes (16)
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
Measured: Baseline
Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm
aortic displacement in the thoracic aorta, lower is worse. Normal values unknown.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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. .
Measured: Baseline MRI with aortic surgery tissue
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2023
- Study start23 Feb 2023
- Primary completion16 Apr 2025
- Study completion16 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 148 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Netherlands Organisation for Scientific Research
- Responsible party
- Principal investigator, Dr. Ir. Pim van Ooij, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
- Investigators
- Pim Ooij, PhD, Principal investigator, Amsterdam UMC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05944614
- Sponsor's protocol ID
- NL82669.018.22
- Acronym
- TOWER
- Status last verified
- Jul 2025
- First submitted
- 28 Jun 2023
- Last updated
- 3 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Individual participant data will not be shared
Study at a glance
From the registry record, last updated by the sponsor on 3 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Towards Optimal Treatment of Marfan Syndrome
- ClinicalTrials.gov ID
- NCT05944614
- Acronym / sponsor ID
- TOWER / NL82669.018.22
- Conditions
- Marfan Syndrome
- Keywords
- Magnetic Resonance Imaging, Aortic disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 148 participants (actual)
- Lead sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)University, hospital or other
- Collaborators
- Netherlands Organisation for Scientific Research
- Study start
- 23 Feb 2023 (actual)
- Primary completion
- 16 Apr 2025 (actual)
- Study completion
- 16 Apr 2025 (actual)
- First posted
- 13 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Marfan Syndrome patients | – | Other: Magnetic Resonance imaging (MRI) examinationMarfan Syndrome patients age 18-50 with a pathological FBN1 mutation |
| Healthy volunteers | – | Other: Magnetic Resonance imaging (MRI) examinationAge and gender matched healthy control patients without a history of aortic disease. |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- 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.
Key inclusion criteria (2 listed)
- MFS patients with a known FBN1 mutation
- Between 18-50 years of age
Key exclusion criteria (5 listed)
- Contraindication for MR imaging
- Mental retardation
- Pregnancy, or planned pregnancy during study period
- History of aorta disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Magnetic Resonance imaging (MRI) examination3D CINE and 4 dimensional (4D) flow MRI sequence | Other | Healthy volunteers, Marfan Syndrome patients |
Primary outcome
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.
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
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
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 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 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.
16 secondary outcomes
Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta
Time frame: 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
Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation
Time frame: Baseline
Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients
Time frame: Baseline
Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used
Time frame: Baseline
Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta
Time frame: 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
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
Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients
Time frame: Baseline
Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used
Time frame: Baseline
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta
Time frame: 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
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
Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients
Time frame: Baseline
Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used
Time frame: 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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jul 2025.
- Individual participant dataSharing planned: No. Individual participant data will not be shared
Related trials for Marfan Syndrome
RecruitingObservational study
Asprosin and miRNA Expression in Young Women With Metabolic Syndrome
Metabolic Syndrome, Insulin Resistance
Enrolling by invitationObservational study
Advanced Ultrasound Signal Processing of Suspicious Breast Images
Breast Cancer, Breast Cyst
RecruitingObservational study
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
Vascular Anomaly, Osler Rendu Disease
Not yet recruitingObservational study
Asprosin in Behect Patients
Behcet Disease
Not yet recruitingObservational study
Serum Asprosin, Metabolic Syndrome, and Cardiometabolic Risk in Rheumatoid Arthritis
Rheumatoid Arthritis, Metabolic Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pim Ooij, PhD principal investigator
Amsterdam UMC
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome, run by Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) at 4 sites in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers. (time frame: Baseline). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jul 2025.