Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
Condition: Marfan Syndrome
MeSH terms: Marfan Syndrome; Arachnodactyly; Syndrome
Study type: Interventional

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.
    

Intervention name(s): Rehabilitation program
Intervention type(s): Device
Intervention description(s): The rehabilitation program will consist of a Personalized Training Program and a muscle building program.
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Supportive Care
Keywords: Marfan syndrome; Personal Training Program; Cardiorespiratory rehabilitation; Muscular rehabilitation