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Clinical Trial Summary

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.

Clinical Trial Description

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. 1. / Assessment of muscular capacities 2. / Assessment of cardiovascular and respiratory capacities 3. / Response to psychometric questionnaires 4. / Participation in a training circuit (training protocol) ;

Study Design

Related Conditions & MeSH terms

NCT number NCT04553094
Study type Interventional
Source French Cardiology Society
Status Completed
Phase N/A
Start date January 4, 2021
Completion date September 30, 2022

See also
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