Towards Optimal Treatment of Marfan Syndrome

NCT05944614 | Completed

• 1 other identifier: NL82669.018.22
• Study Type: observational
• Target: 148
• Locations: 1 country
• Sites: 4

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.

Conditions

Marfan Syndrome

Keywords

Magnetic Resonance Imaging; Aortic disease

Outcome Measures

Primary Outcomes (6)

• 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.

  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

  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

  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

  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.

  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.

  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

  Baseline

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

  Baseline

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

  Baseline

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

  Baseline

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

  Baseline

Study Arms (2)

Marfan Syndrome patients

Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation

Other: Magnetic Resonance imaging (MRI) examination

Healthy volunteers

Age and gender matched healthy control patients without a history of aortic disease.

Other: Magnetic Resonance imaging (MRI) examination

Interventions

Magnetic Resonance imaging (MRI) examination OTHER

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

Healthy volunteers; Marfan Syndrome patients

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

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

You may not qualify if:

• Contraindication for MR imaging
• Mental retardation
• Pregnancy, or planned pregnancy during study period
• \- History of aorta disease

Sponsors & Collaborators

• Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA): lead
• Netherlands Organisation for Scientific Research: collaborator

Study Sites (4)

Radboud University Medical Center

Nijmegen, Gelderland, 6525 GA, Netherlands

Location

Leiden University Medical Center

Leiden, North Holland, 2333 ZA, Netherlands

Location

Amsterdam UMC, location AMC

Amsterdam, 1105 AZ, Netherlands

Location

University Medical Center Groningen

Groningen, 9713 GZ, Netherlands

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Aortic tissue acquired during aorta surgery

MeSH Terms

Conditions

Marfan Syndrome; Aortic Diseases

Interventions

Magnetic Resonance Spectroscopy; Restraint, Physical

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Spectrum Analysis; Chemistry Techniques, Analytical; Investigative Techniques; Behavior Control; Therapeutics; Immobilization

Study Officials

• Pim Ooij, PhD

  Amsterdam UMC

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 28, 2023
• First Posted: July 13, 2023
• Study Start: February 23, 2023
• Primary Completion: April 16, 2025
• Study Completion: April 16, 2025
• Last Updated: July 3, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

NL (4)