Marfan SyndromeMarfanpowerNCT03236571
Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
A study testing Rehabilitation program in people with Marfan Syndrome, run by University Hospital, Toulouse at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 7 to 25 years
- Conditions the study is for
- Marfan Syndrome
- What is being tested?
- Rehabilitation program
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 28 participants
- Where
- 1 siteFrance
- Study dates
- 24 Jul 2018to 21 Jun 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study.
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.
Read the 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.
- Conditions
- Marfan Syndrome
- Being tested
- Rehabilitation program
- Keywords
- Marfan syndrome, Personal Training Program, Cardiorespiratory rehabilitation, Muscular rehabilitation
- Medical subject headings
- Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rehabilitation programDevice
The rehabilitation program will consist of a Personalized Training Program and a muscle building program.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Device: Rehabilitation program |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Month 9
Secondary outcomes (7)
Fatigability with effort and quality of life.
Questionnaires and self-assessment test. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Muscular force.
Static evaluation (handgrip) and dynamic evaluation by mechanography. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Body composition (muscle mass and bone mass).
Bone mineral content, bone mineral density of the entire body and lumbar spine (L2-L4), and muscle mass evaluated by dual-energy xray absorptiometry. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Aortic dilation and myocardial function.
Assessed by a cardiac ultrasound 2D and 2D strain. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Endothelial function.
Assessed by a high resolution vascular ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Compliance.
Assessed by questionnaires. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Cardiac adverse events.
Evolution of the aorta dimensions, evaluated by ultrasound. It will be compared between the beginning and the end of the rehabilitation.
Measured: Month 9
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2017
- Study start24 Jul 2018
- Primary completion21 Jun 2022
- Study completion21 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (12)Papers the sponsor has linked to this study.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas Edouard, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03236571
- Sponsor's protocol ID
- RC31/17/0257
- Acronym
- Marfanpower
- Status last verified
- Jul 2022
- First submitted
- 28 Jul 2017
- Last updated
- 10 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6.
PubMed 16325700De 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.
PubMed 8723076Loeys 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.
PubMed 20591885Bathen 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.
PubMed 24719044Giske 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.
PubMed 14582554Percheron 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.
PubMed 17329351Behan 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.
PubMed 12700307Haine 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.
PubMed 25656438Burks 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.
PubMed 21562229Peters 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.
PubMed 11683774Edouard 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.
PubMed 41639855Edouard 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.
PubMed 38685042
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study.
- ClinicalTrials.gov ID
- NCT03236571
- Acronym / sponsor ID
- Marfanpower / RC31/17/0257
- Conditions
- Marfan Syndrome
- Keywords
- Marfan syndrome, Personal Training Program, Cardiorespiratory rehabilitation, Muscular rehabilitation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 24 Jul 2018 (actual)
- Primary completion
- 21 Jun 2022 (actual)
- Study completion
- 21 Jun 2022 (actual)
- First posted
- 2 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rehabilitation Program | Experimental | Device: Rehabilitation programIt 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). |
Who may qualify
- Ages
- 7 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Rehabilitation programThe rehabilitation program will consist of a Personalized Training Program and a muscle building program. | Device | Rehabilitation Program |
Primary outcome
Measurement of the maximum endurance capacities.
Time frame: Month 9
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.
7 secondary outcomes
Fatigability with effort and quality of life.
Time frame: Month 9
Muscular force.
Time frame: Month 9
Body composition (muscle mass and bone mass).
Time frame: Month 9
Aortic dilation and myocardial function.
Time frame: Month 9
Endothelial function.
Time frame: Month 9
Compliance.
Time frame: Month 9
Cardiac adverse events.
Time frame: Month 9
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2026.
- Background: PubMed 16325700Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6.
- Background: PubMed 8723076De 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.
- Background: PubMed 20591885Loeys 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.
- Background: PubMed 24719044Bathen 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.
- Background: PubMed 14582554Giske 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.
- Background: PubMed 17329351Percheron 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.
- Background: PubMed 12700307Behan 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.
- Background: PubMed 25656438Haine 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.
- Background: PubMed 21562229Burks 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.
- Background: PubMed 11683774Peters 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.
- Results publication: PubMed 41639855Edouard 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.
- Derived from this study: PubMed 38685042Edouard 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas Edouard, MD principal investigator
University Hospital, Toulouse
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Rehabilitation program in people with Marfan Syndrome, run by University Hospital, Toulouse at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of the maximum endurance capacities. (time frame: Month 9). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03236571, which also lists 12 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Feb 2026.