Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.

NCT03236571 | Completed

• 1 other identifier: RC31/17/0257
• Study Type: interventional
• Target: 28
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Marfan Syndrome

Keywords

Marfan syndrome; Personal Training Program; Cardiorespiratory rehabilitation; Muscular rehabilitation

Outcome Measures

Primary Outcomes (1)

• Measurement of the maximum endurance capacities.

  Reflected by the maximal oxygen consumption (VO2 peak) during an exercise test. The values of VO2 peak will be compared between the beginning and the end of the rehabilitation.

  Month 9

Secondary Outcomes (7)

• Fatigability with effort and quality of life.

  Month 9

• Muscular force.

  Month 9

• Body composition (muscle mass and bone mass).

  Month 9

• Aortic dilation and myocardial function.

  Month 9

• Endothelial function.

  Month 9

Study Arms (1)

Rehabilitation Program

EXPERIMENTAL

It will consist of 2 sessions of 40 minutes per week, for 12 weeks on ergometric bicycle. Each session of 40 min will include 5 minutes of warm-up, 5 minutes of recovery and 6 sequences of 5 min. Each 5-minute sequence will alternate between 4 minutes of pedaling at a load corresponding to the 1st ventilatory threshold (determined in the initial maximum cardiorespiratory effort test) and 1 minute of pedaling at a load corresponding to 2nd ventilatory threshold (determined in the initial maximum cardiopulmonary stress test).

Device: Rehabilitation program

Interventions

Rehabilitation program DEVICE

The rehabilitation program will consist of a Personalized Training Program and a muscle building program.

Rehabilitation Program

Eligibility Criteria

• Age: 7 Years - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Marfan syndrome according to Ghent criteria.
• For minors, signed informed consent of at least one of the holders of the parental authority. For majors, signed informed consent.
• Patient affiliated to a social security scheme or equivalent.

You may not qualify if:

• \- Cardiac contraindications to Personal Training Program: O Severe aorta dilatation (aortic diameter\> 45 mm) O and / or left ventricular failure (left ventricular ejection fraction \<45%) O and / or severe mitral leakage ≥ grade 3
• \- Pregnancy

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

CHU de Toulouse

Toulouse, Midi-Pyrénées, 31059, France

Location

Related Publications (12)

• Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6.

  PMID: 16325700 BACKGROUND

• De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26. doi: 10.1002/(SICI)1096-8628(19960424)62:43.0.CO;2-R.

  PMID: 8723076 BACKGROUND

• Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.

  PMID: 20591885 BACKGROUND

• Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet A. 2014 Aug;164A(8):1931-9. doi: 10.1002/ajmg.a.36574. Epub 2014 Apr 9.

  PMID: 24719044 BACKGROUND

• Giske L, Stanghelle JK, Rand-Hendrikssen S, Strom V, Wilhelmsen JE, Roe C. Pulmonary function, working capacity and strength in young adults with Marfan syndrome. J Rehabil Med. 2003 Sep;35(5):221-8. doi: 10.1080/16501970306095.

  PMID: 14582554 BACKGROUND

• Percheron G, Fayet G, Ningler T, Le Parc JM, Denot-Ledunois S, Leroy M, Raffestin B, Jondeau G. Muscle strength and body composition in adult women with Marfan syndrome. Rheumatology (Oxford). 2007 Jun;46(6):957-62. doi: 10.1093/rheumatology/kel450. Epub 2007 Feb 28.

  PMID: 17329351 BACKGROUND

• Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. doi: 10.1136/jnnp.74.5.633.

  PMID: 12700307 BACKGROUND

• Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype. J Bone Miner Res. 2015 Aug;30(8):1369-76. doi: 10.1002/jbmr.2471. Epub 2015 May 14.

  PMID: 25656438 BACKGROUND

• Burks TN, Andres-Mateos E, Marx R, Mejias R, Van Erp C, Simmers JL, Walston JD, Ward CW, Cohn RD. Losartan restores skeletal muscle remodeling and protects against disuse atrophy in sarcopenia. Sci Transl Med. 2011 May 11;3(82):82ra37. doi: 10.1126/scitranslmed.3002227.

  PMID: 21562229 BACKGROUND

• Peters KF, Horne R, Kong F, Francomano CA, Biesecker BB. Living with Marfan syndrome II. Medication adherence and physical activity modification. Clin Genet. 2001 Oct;60(4):283-92. doi: 10.1034/j.1399-0004.2001.600406.x.

  PMID: 11683774 BACKGROUND

• Edouard T, Bajanca F, Flumian C, Marion-Latard F, Pradayrol C, Guitarte A, Langeois M, Van Kien PK, Yart A, Auriol F, Garrigue E, Dulac Y. A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life. Orphanet J Rare Dis. 2026 Feb 4;21(1):86. doi: 10.1186/s13023-026-04234-4.

  PMID: 41639855 RESULT

• Edouard T, Picot MC, Bajanca F, Huguet H, Guitarte A, Langeois M, Chesneau B, Van Kien PK, Garrigue E, Dulac Y, Amedro P. Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study. Orphanet J Rare Dis. 2024 Apr 30;19(1):180. doi: 10.1186/s13023-024-03191-0.

  PMID: 38685042 DERIVED

MeSH Terms

Conditions

Marfan Syndrome

Interventions

Rehabilitation

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)

Aftercare; Continuity of Patient Care; Patient Care; Therapeutics; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Thomas Edouard, MD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: July 28, 2017
• First Posted: August 2, 2017
• Study Start: July 24, 2018
• Primary Completion: June 21, 2022
• Study Completion: June 21, 2022
• Last Updated: February 10, 2026

Record last verified: 2022-07

Locations

FR (1)