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Marfan syndrome (MS) is an autosomal dominant genetic disorder caused by a mutation in the fibrillin-1 gene (FBN1) encoding the protein fibrillin-1. Fibrillin is the main component of microfibrils, elements found in all of the body's tissues, and this pathology is characterized by the multitude of its clinical manifestations. These patients may develop aneurysms in the aortic root and one of the main factors of morbidity in patients with MS is aortic dissection. Prevention mainly involves preventive aortic surgery. However, the repercussions are global and can affect the functioning of other tissues such as skeletal muscle tissue, bone tissue, lung tissue and the eyes. The association of skeletal (scoliosis, hyperlaxity), muscular and ocular disorders is clearly associated with an impairment in the quality of life. These disorders are associated with pain and disability which affect professional activity, leisure and family life.
Physical activity could represent a relevant alternative for these patients. A recent animal study suggests that moderate training is beneficial.
The main objective is to show that the quality of life of patients with Marfan syndrome can be improved by personalized training at home. The goal is to be able to offer new non-drug management based on physical activity to these patients.
Improved quality of life; Improvement of muscle strength by a muscle strengthening protocol; Improvement of cardiovascular function parameters. Regular coaching throughout the study.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1 | No Intervention | No physical training | |
| Group 2 | Experimental | Endurance training |
|
| Group 3 | Experimental | Muscle building training |
|
| Group 4 | Experimental | Training combining endurance + muscle building |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Endurance training | Other | Aerobic circuit training |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Quality of life assessment: questionnaire | Assessed with Medical Outcome Study Short Form 36 questionnaire, a scale scored on a 0 to 100 range so that the lowest is the worth condition and highest is the best condition. | 3 months |
| Measure | Description | Time Frame |
|---|---|---|
| Pain assessment: Fibromyalgia Rapid Screening Tool | Assessed with Fibromyalgia Rapid Screening Tool | 3 months |
| Self-perception assessment | Assessed with Physical Self Inventory questionnaire, a scale scoring 25 items rated on a 6-point scale ranging from 1 (Not at all) to 6 (Entirely) and assessing 6 dimensions (global self-worth (10-50), physical self-worth (10-50), physical condition (10-50), sport competence (10-40), physical attractiveness (10-30), and physical strength (10-30)) of the physical self-conception. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Guillaume JONDEAU, MD | Groupe Hospitalier Bichat - Claude Bernard | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Groupe Hospitalier Bichat - Claude Bernard | Paris | 75018 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39291498 | Derived | Jouini S, Milleron O, Eliahou L, Jondeau G, Vitiello D. Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity. J Am Heart Assoc. 2024 Oct;13(19):e033024. doi: 10.1161/JAHA.123.033024. Epub 2024 Sep 18. |
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| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
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| ID | Term |
|---|---|
| D000076663 | Endurance Training |
| ID | Term |
|---|---|
| D005081 | Exercise Therapy |
| D012046 | Rehabilitation |
| D000359 | Aftercare |
| D003266 | Continuity of Patient Care |
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3 groups of physical training intervention compared with control group
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| Muscle building training |
| Other |
Muscle strengthening circuit training |
|
| 3 months |
| Aortic diameter | Evolution of the aortic diameter (in millimeter) in echocardiography, safety cardiovascular parameters | 3 months |
| Blood pressure | Evolution of the systolic and diastolic blood pressures (in Millimeter of mercury) during exercise, monitoring of physiological parameters | 3 months |
| Heart rate | Evolution of heart rate (Beats per minute) during exercise, monitoring of physiological parameters | 3 months |
| oxygen consumption | Evolution of oxygen consumption (in liter) during exercise, monitoring of physiological parameters | 3 months |
| Maximal voluntary contraction | Evolution of maximal voluntary contraction (in Newtons) during exercise, monitoring of physiological parameters | 3 months |
| Left Ventricular Ejection Fraction (LVEF) | Evolution of Left Ventricular Ejection Fraction (in percentage) at rest, monitoring of cardiovascular parameters. | 3 months |
| Global longitudinal strain (GLS) | Evolution of GLS (in percentage) at rest, monitoring of cardiovascular parameters | 3 months |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D005791 |
| Patient Care |
| D013812 | Therapeutics |
| D026741 | Physical Therapy Modalities |
| D064797 | Physical Conditioning, Human |
| D015444 | Exercise |
| D009043 | Motor Activity |
| D009068 | Movement |
| D009142 | Musculoskeletal Physiological Phenomena |
| D055687 | Musculoskeletal and Neural Physiological Phenomena |