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

NCT04553094 | Completed

• 1 other identifier: 2020-01
• Study Type: interventional
• Target: 72
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Marfan Syndrome

Keywords

Physical training

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (9)

• Pain assessment: Fibromyalgia Rapid Screening Tool

  3 months

• Self-perception assessment

  3 months

• Aortic diameter

  3 months

• Blood pressure

  3 months

• Heart rate

  3 months

Study Arms (4)

Group 1

NO INTERVENTION

No physical training

Group 2

EXPERIMENTAL

Endurance training

Other: Endurance training

Group 3

EXPERIMENTAL

Muscle building training

Other: Muscle building training

Group 4

EXPERIMENTAL

Training combining endurance + muscle building

Other: Endurance training; Other: Muscle building training

Interventions

Endurance training OTHER

Aerobic circuit training

Group 2; Group 4

Muscle building training OTHER

Muscle strengthening circuit training

Group 3; Group 4

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• French Cardiology Society: lead

Study Sites (1)

Groupe Hospitalier Bichat - Claude Bernard

Paris, 75018, France

Location

Related Publications (1)

• 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.

  PMID: 39291498 DERIVED

MeSH Terms

Conditions

Marfan Syndrome

Interventions

Endurance Training

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Exercise Therapy; Rehabilitation; Aftercare; Continuity of Patient Care; Patient Care; Therapeutics; Physical Therapy Modalities; Physical Conditioning, Human; Exercise; Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Guillaume JONDEAU, MD

  Groupe Hospitalier Bichat - Claude Bernard

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 3 groups of physical training intervention compared with control group

Study Record Dates

• First Submitted: September 11, 2020
• First Posted: September 17, 2020
• Study Start: January 4, 2021
• Primary Completion: September 30, 2022
• Study Completion: September 30, 2022
• Last Updated: October 3, 2022

Record last verified: 2022-09

Locations

FR (1)