Clinical trial NCT03236571: Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
Official title: Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Marfan Syndrome
Keywords: Marfan syndrome
Personal Training Program
Cardiorespiratory rehabilitation
Muscular rehabilitation
Lead sponsor: University Hospital, Toulouse
Sponsor class: OTHER
First posted: 2017-08-02
Enrollment: 28
Sex: ALL
Minimum age (years): 7
Maximum age (years): 25
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SUPPORTIVE_CARE

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.

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.

Eligibility 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

Primary outcomes:
measure: Measurement of the maximum endurance capacities.
timeFrame: Month 9
Secondary outcomes:
measure: Fatigability with effort and quality of life.
timeFrame: Month 9
measure: Muscular force.
timeFrame: Month 9
measure: Body composition (muscle mass and bone mass).
timeFrame: Month 9
measure: Aortic dilation and myocardial function.
timeFrame: Month 9
measure: Endothelial function.
timeFrame: Month 9
measure: Compliance.
timeFrame: Month 9
measure: Cardiac adverse events.
timeFrame: Month 9
Other outcomes:
Locations:
city: Toulouse
country: France
facility: CHU de Toulouse
state: Midi-Pyrénées
Study officials:
affiliation: CHU Toulouse
name: Thomas Edouard, MD
role: PRINCIPAL_INVESTIGATOR
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