Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
- Conditions
- Marfan Syndrome
- Interventions
- Device: Rehabilitation program
- Registration Number
- NCT03236571
- Lead Sponsor
- 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.
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 28
- 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.
-
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 & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Rehabilitation Program 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).
- Primary Outcome Measures
Name Time Method Measurement of the maximum endurance capacities. 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
Name Time Method Fatigability with effort and quality of life. Month 9 Questionnaires and self-assessment test. It will be compared between the beginning and the end of the rehabilitation.
Body composition (muscle mass and bone mass). 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.
Aortic dilation and myocardial function. Month 9 Assessed by a cardiac ultrasound 2D and 2D strain. It will be compared between the beginning and the end of the rehabilitation.
Endothelial function. Month 9 Assessed by a high resolution vascular ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Muscular force. Month 9 Static evaluation (handgrip) and dynamic evaluation by mechanography. It will be compared between the beginning and the end of the rehabilitation.
Compliance. Month 9 Assessed by questionnaires. It will be compared between the beginning and the end of the rehabilitation.
Cardiac adverse events. Month 9 Evolution of the aorta dimensions, evaluated by ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Trial Locations
- Locations (1)
CHU de Toulouse
🇫🇷Toulouse, Midi-Pyrénées, France