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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03236571
Recruitment Status : Recruiting
First Posted : August 2, 2017
Last Update Posted : July 12, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Toulouse

Brief Summary:

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.


Condition or disease Intervention/treatment Phase
Marfan Syndrome Device: Rehabilitation program Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Supportive Care
Official Title: Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study.
Actual Study Start Date : July 24, 2018
Estimated Primary Completion Date : February 2021
Estimated Study Completion Date : February 2021

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
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.




Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. Compliance. [ Time Frame: Month 9 ]
    Assessed by questionnaires. It will be compared between the beginning and the end of the rehabilitation.

  7. 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.



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Ages Eligible for Study:   7 Years to 25 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03236571


Contacts
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Contact: Thomas Edouard, MD 5 35 55 85 55 ext 33 edouard.t@chu-toulouse.fr
Contact: Françoise Auriol 5 67 77 10 95 ext 33 auriol.f@chu-toulouse.fr

Locations
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France
CHU de Toulouse Recruiting
Toulouse, Midi-Pyrénées, France, 31059
Contact: Thomas Edouard, MD    5 35 55 85 55 ext 33    edouard.t@chu-toulouse.fr   
Contact: Françoise Auriol    5 67 77 10 95 ext 33    auriol.f@chu-toulouse.fr   
Principal Investigator: Thomas Edouard, MD         
Sub-Investigator: Eric Garrigue, MD         
Sub-Investigator: Yves Dulac, MD         
Sponsors and Collaborators
University Hospital, Toulouse
Investigators
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Principal Investigator: Thomas Edouard, MD CHU Toulouse

Publications:

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Responsible Party: University Hospital, Toulouse
ClinicalTrials.gov Identifier: NCT03236571    
Other Study ID Numbers: RC31/17/0257
First Posted: August 2, 2017    Key Record Dates
Last Update Posted: July 12, 2019
Last Verified: July 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Toulouse:
Marfan syndrome
Personal Training Program
Cardiorespiratory rehabilitation
Muscular rehabilitation
Additional relevant MeSH terms:
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Marfan Syndrome
Arachnodactyly
Syndrome
Disease
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Connective Tissue Diseases
Limb Deformities, Congenital
Musculoskeletal Abnormalities