Marfan Syndrome
Conditions
Keywords
Marfan syndrome, Personal Training Program, Cardiorespiratory rehabilitation, Muscular rehabilitation
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.
Interventions
DEVICERehabilitation program
The rehabilitation program will consist of a Personalized Training Program and a muscle building program.
Sponsors
University Hospital, Toulouse
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
7 Years to 25 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
| 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. |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORThomas Edouard, MD
University Hospital, Toulouse
Outcome results
None listed