Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome. (Marfanpower)

February 6, 2026 updated by: University Hospital, Toulouse

Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study.

Marfan syndrome (MFS) is a rare genetic disease (1/5000) characterized by the association of ocular impairment, cardiovascular disease and musculoskeletal disease.

In some chronic conditions, physical activity and training have been shown to be effective in improving muscle strength and functional abilities but also fatigue and quality of life. We hypothesize that the implementation of a personalized exercise rehabilitation program (Personalized Training Program) in children and young adults with MFS, by improving muscle mass, physical endurance, muscle strength, bone mass and quality of life of these patients. In order to test this hypothesis, investigators wish to carry out an interventional, prospective, monocentric study for the first time in children and young adults (<25 years old) presenting an MFS.

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.

Detailed Description

Marfan syndrome (MFS) is a rare genetic disease (1/5000) characterized by the association of ocular impairment, cardiovascular disease and musculoskeletal disease. Chronic fatigue and decreased physical endurance are almost constant complaints of patients with MFS (90% according to some studies), and have an impact on activities of daily living and quality of life. The fragility of the connective tissues and the muscle deficit, responsible for increased stress on the musculoskeletal system, may be involved in this symptomatology. This deficiency in muscle mass is already present in young children and worsens in adolescents and young adults, as researchers have shown in a clinical study carried out in the Toulouse MFS competence center. This muscle deficit may also explain, at least in part, the deficit in bone mass observed in children and adults.

In some chronic conditions, physical activity and training have been shown to be effective in improving muscle strength and functional abilities but also fatigue and quality of life. Investigators hypothesize that the implementation of a personalized exercise rehabilitation program (Personalized Training Program) in children and young adults with MFS, by improving muscle mass, physical endurance, muscle strength, bone mass and quality of life of these patients. In order to test this hypothesis, investigators wish to carry out an interventional, prospective, monocentric study for the first time in children and young adults (<25 years old) presenting an MFS.

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.
Interventional

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.
28

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

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

Study Locations

  • France
    • Midi-Pyrénées
      • Toulouse, Midi-Pyrénées, France, 31059
        • CHU de Toulouse

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

7 years to 25 years (Child, Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • Marfan syndrome according to Ghent criteria.
  • For minors, signed informed consent of at least one of the holders of the parental authority. For majors, signed informed consent.
  • Patient affiliated to a social security scheme or equivalent.

Exclusion Criteria:

- Cardiac contraindications to Personal Training Program: O Severe aorta dilatation (aortic diameter> 45 mm) O and / or left ventricular failure (left ventricular ejection fraction <45%) O and / or severe mitral leakage ≥ grade 3

- Pregnancy

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

  • Primary Purpose: Supportive Care
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
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.
Experimental: Rehabilitation Program
It will consist of 2 sessions of 40 minutes per week, for 12 weeks on ergometric bicycle. Each session of 40 min will include 5 minutes of warm-up, 5 minutes of recovery and 6 sequences of 5 min. Each 5-minute sequence will alternate between 4 minutes of pedaling at a load corresponding to the 1st ventilatory threshold (determined in the initial maximum cardiorespiratory effort test) and 1 minute of pedaling at a load corresponding to 2nd ventilatory threshold (determined in the initial maximum cardiopulmonary stress test).
Device: Rehabilitation program
The rehabilitation program will consist of a Personalized Training Program and a muscle building program.

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
Measurement of the maximum endurance capacities.
Time Frame: Month 9
Reflected by the maximal oxygen consumption (VO2 peak) during an exercise test. The values of VO2 peak will be compared between the beginning and the end of the rehabilitation.
Month 9

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
Fatigability with effort and quality of life.
Time Frame: Month 9
Questionnaires and self-assessment test. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Muscular force.
Time Frame: Month 9
Static evaluation (handgrip) and dynamic evaluation by mechanography. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Body composition (muscle mass and bone mass).
Time Frame: Month 9
Bone mineral content, bone mineral density of the entire body and lumbar spine (L2-L4), and muscle mass evaluated by dual-energy xray absorptiometry. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Aortic dilation and myocardial function.
Time Frame: Month 9
Assessed by a cardiac ultrasound 2D and 2D strain. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Endothelial function.
Time Frame: Month 9
Assessed by a high resolution vascular ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Compliance.
Time Frame: Month 9
Assessed by questionnaires. It will be compared between the beginning and the end of the rehabilitation.
Month 9
Cardiac adverse events.
Time Frame: Month 9
Evolution of the aorta dimensions, evaluated by ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Month 9

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.
University Hospital, Toulouse

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: Thomas EDOUARD, MD, University Hospital, Toulouse

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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.
July 24, 2018

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.
June 21, 2022

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.
June 21, 2022

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).
July 28, 2017

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 28, 2017

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.
August 2, 2017

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.
February 10, 2026

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.
February 6, 2026

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, 2022

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.
  • RC31/17/0257

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

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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