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NCT Number: NCT04553094

Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome

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.

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Key information

Conditions

Marfan Syndrome Abnormalities, Multiple Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Musculoskeletal Diseases Skin and Connective Tissue Diseases

Age range

18 year–75 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Groupe Hospitalier Bichat - Claude Bernard

Paris, 75018, France

About this study

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.

  • / Assessment of muscular capacities
  • / Assessment of cardiovascular and respiratory capacities
  • / Response to psychometric questionnaires
  • / Participation in a training circuit (training protocol)

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • patient with Marfan syndrome and followed up at Bichat Claude Bernard hospital, Paris. Marfan syndrome should be diagnosed according to the Ghent nosology revised in 2010
  • Patient taking protective treatment for the aorta (beta blocker, calcium channel blocker, ACE inhibitor, angiotensin II receptor antagonist).
  • Valid patient, able to return to consultation and carry out functional assessments and personalized physical training at home.
  • Patients operated prophylactically on the ascending aorta may be included at a distance > 6 months from their surgery.

Exclusion criteria

  • Myocardial pathology other than Marfan syndrome.
  • Thoracic aorta dissection.
  • Aortic diameter > 45 millimeters.
  • Uncontrolled high blood pressure at rest (systolic blood pressure > 140 Millimeter of mercury and diastolic blood pressure > 90 Millimeter of mercury)
  • Increase in systolic blood pressure > 160 Millimeter of mercury during exercise.
  • Pregnancy at the time of the study

Treatment and study plan

Endurance training

Other

Aerobic circuit training

Muscle building training

Other

Muscle strengthening circuit training

Primary outcomes

  1. Quality of life assessment: questionnaire

    Time frame: 3 months

    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.

Secondary outcomes

  1. Pain assessment: Fibromyalgia Rapid Screening Tool

    Time frame: 3 months

    Assessed with Fibromyalgia Rapid Screening Tool

  2. Self-perception assessment

    Time frame: 3 months

    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.

  3. Aortic diameter

    Time frame: 3 months

    Evolution of the aortic diameter (in millimeter) in echocardiography, safety cardiovascular parameters

  4. Blood pressure

    Time frame: 3 months

    Evolution of the systolic and diastolic blood pressures (in Millimeter of mercury) during exercise, monitoring of physiological parameters

  5. Heart rate

    Time frame: 3 months

    Evolution of heart rate (Beats per minute) during exercise, monitoring of physiological parameters

  6. oxygen consumption

    Time frame: 3 months

    Evolution of oxygen consumption (in liter) during exercise, monitoring of physiological parameters

  7. Maximal voluntary contraction

    Time frame: 3 months

    Evolution of maximal voluntary contraction (in Newtons) during exercise, monitoring of physiological parameters

  8. Left Ventricular Ejection Fraction (LVEF)

    Time frame: 3 months

    Evolution of Left Ventricular Ejection Fraction (in percentage) at rest, monitoring of cardiovascular parameters.

  9. Global longitudinal strain (GLS)

    Time frame: 3 months

    Evolution of GLS (in percentage) at rest, monitoring of cardiovascular parameters

Sponsors and collaborators

Lead sponsor

French Cardiology Society

Other

Registry information

Official study title

Evaluation of the Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome

Acronym: MARF'HOME

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Sep 17, 2020
Registry last updated
Oct 3, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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