Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome (MARF'HOME)

Evaluation of the 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.

Study Overview

• Status: Completed
• Conditions: Marfan Syndrome
• Intervention / Treatment: Other: Endurance training; Other: Muscle building training

Detailed 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 Type: Interventional
• Enrollment (Actual): 72
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75018
    • Groupe Hospitalier Bichat - Claude Bernard

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 73 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
No Intervention: Group 1; No physical training
Experimental: Group 2; Endurance training	Other: Endurance training; Aerobic circuit training
Experimental: Group 3; Muscle building training	Other: Muscle building training; Muscle strengthening circuit training
Experimental: Group 4; Training combining endurance + muscle building	Other: Endurance training; Aerobic circuit training; Other: Muscle building training; Muscle strengthening circuit training

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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.	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

Collaborators and Investigators

• Sponsor: French Cardiology Society
• Investigators: Principal Investigator: Guillaume JONDEAU, MD, Groupe Hospitalier Bichat - Claude Bernard

Study record dates

Study Major Dates

• Study Start (Actual): January 4, 2021
• Primary Completion (Actual): September 30, 2022
• Study Completion (Actual): September 30, 2022

Study Registration Dates

• First Submitted: September 11, 2020
• First Submitted That Met QC Criteria: September 16, 2020
• First Posted (Actual): September 17, 2020

Study Record Updates

• Last Update Posted (Actual): October 3, 2022
• Last Update Submitted That Met QC Criteria: September 30, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Keywords: Physical training
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Bone Diseases, Developmental; Limb Deformities, Congenital; Syndrome; Marfan Syndrome; Arachnodactyly
• Other Study ID Numbers: 2020-01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No