Marfan SyndromeNCT04641325
Marfan Syndrome Moderate Exercise Pilot
A study testing Exercise Intervention Group in people with Marfan Syndrome, run by Baylor College of Medicine at 1 site in United States.
Trial summary
Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. Read more about this study
- Who is it for?
- Ages 12 to 21 years
- Conditions the study is for
- Marfan Syndrome
- What is being tested?
- Exercise Intervention Group
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 23 participants
- Where
- 1 siteUnited States
- Study dates
- 9 Nov 2020to 20 Dec 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 12 to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Must be between the ages of 12-21
- Diagnosis of Marfan Syndrome
- Must not have other conditions that limit the patients ability to perform exercise
Who cannot join
- Patients who have undergone aortic surgery
- Patients with major congenital heart disease
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluating the Effects of Moderate Physical Activity on Health and Well-being in Adolescents and Young Adults With Marfan Syndrome
Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. The lack of exercise and deconditioning have detrimental effects including increasing weakness, joint pain, decreased endurance, and depressive symptoms. Given the significant paucity of data currently existing on the effects of exercise in humans with MFS, and the recent, optimistic findings in rodent models, this pilot trial was established to assess the effects of moderated dynamic exercise in adolescents and young adults with MFS.
Read the detailed description
Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given anecdotal reports of aortic dissection, limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities, most commonly isometric exercise and contact sports. Published guidelines also suggest restriction from highly dynamic competitive sports. While clinicians may mean to restrict patients only from competitive sports, often children and families interpret this caution as applying to almost all exercise, resulting in a large number of patients with Marfan syndrome being sedentary. This lack of exercise and deconditioning likely have detrimental effects in increasing weakness and joint pain and decreasing endurance. Depressive symptoms are also not uncommon in Marfan syndrome, and may be triggered or exacerbated by guidance to acutely cease participation in sports at the time of diagnosis.
To date, as far as the investigators are aware, there are no published controlled studies on the effects of dynamic exercise on human subjects. In 2017, Mas-Stachurska et al published a study suggesting that a moderate level of dynamic exercise mitigated progressive degradation of the cardiac structures typically seen in Marfan Syndrome in a rodent sample. This study suggests the possibility that the fears surrounding moderate exercise in humans may be unwarranted. In addition, this study suggests that moderate exercise may actually protect the aorta and myocardium, in addition to the numerous other physical and emotional benefits that have been shown to result from consistent exercise. The overall goal is to evaluate the effects of a moderate dynamic exercise program on measures of cardiovascular, muscular, and mental health in adolescents and young adults with Marfan syndrome. The investigators plan to perform a randomized pilot study to calculate effect estimates to perform a larger multi-center study. The objective is to 1) randomize 20 patients with Marfan syndrome age 12-21 years to current status (controls) versus a moderate dynamic exercise intervention, then 2) allow the control group patients to undergo the exercise intervention. The investigators will then compare outcomes between both the intervention and control groups, and between the baseline and post-intervention states. Specific outcome measures will include cardiovascular assessment: maximal oxygen uptake (max VO2), segmental and central aortic stiffness, ventricular mass and volume, and endothelial function, muscular/physical assessment: manual muscle testing (MMT), functional balance, and pain assessment, and quality of life/mental health assessment: health-related quality of life, depression and anxiety screening scales. The hypothesis is that the intervention of a moderate exercise program introduced by a licensed physical therapist will result in improvement in cardiovascular status, muscular health, and mental health without detrimental effects on the aortic wall.
- Conditions
- Marfan Syndrome
- Being tested
- Exercise Intervention Group
- Keywords
- Cardiovascular, Moderate Exercise, Physical Therapy
- Medical subject headings
- Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exercise Intervention GroupOther
Patients will be educated on methods of self-evaluating exertion and cardiovascular effort by assessing respiratory rate and perceived exertion. Next, patients will be given options for cardiovascular activities and complete at a moderate level of activity for a minimum of 150 minutes per week. Patients will perform a combination of exercises under the supervision of a physical therapist until a mod intensity level is reached and sustained. Patients will be taught to use the activity tracker to record their heart rate, activity, and PES. Patients will have a phone call every week to assess status, answer questions, and provide guidance on progressing intensity or duration of exercise. At the end of 8 weeks all patients will return for re-assessment.
| Study group | Role | What they receive |
|---|---|---|
| Exercise Intervention Group | Experimental | Group of up to 20 patients will receive all of the preliminary outcome measure testing (cardiovascular, musculoskeletal, and psychological screening) in addition to exercise intervention education, demonstration, and follow up to ensure compliance and safety. Receives: Other: Exercise Intervention Group |
What is being measured
The primary outcome is the main question the study is designed to answer.
Maximum VO2
Maximum VO2 in ml/kg/minute will be collected via Exercise Stress Test. Range 30-85, higher is better.
Measured: 4 months
Secondary outcomes (27)
Mean systolic blood pressure
mmHg, range 70-200, both low and high are abnormal, goal is age, sex and height-based, goal 10-50 percentile
Measured: 4 months
Mean Diastolic blood pressure
mmHg, range 20-150, both low and high are abnormal, goal is age, sex and height-based, goal 10-50 percentile
Measured: 4 months
Mean pulse pressure
mmHg, systolic blood pressure minus diastolic blood pressure, range 30-70 mmHg, goal is normal range for age and sex
Measured: 4 months
Weight
kg, range 50-300kg, lower is better, excluding underweight patients
Measured: 4 months
BMI
kg/m2, lower is better generally, excluding pts with BMI <5% for age
Measured: 4 months
Left ventricular strain by cardiac MRI
Continuous measure derived from post-processing MRI
Measured: 4 months
Right ventricular strain by cardiac MRI
Continuous measure derived from post-processing MRI
Measured: 4 months
Aortic root strain
Continuous measure %, higher is less stiff, Range 0-40
Measured: 4 months
Aortic Root Distensibility
×10-3 mm Hg-1, Continuous measure, range 0.1-10
Measured: 4 months
Aortic Root β-Stiffness index
No units, Range 0.1-90
Measured: 4 months
Maximum aortic root dimension
Measured in cm, range 1-8cm
Measured: 4 months
Aortic root z-score
No units, based on body surface area published references, range -3 to 25
Measured: 4 months
Aortic pulse wave velocity from MRI
meters/second, range 0-30
Measured: 4 months
Pulse wave velocity derived from applanation tonometry
meters/second, range 0-30
Measured: 4 months
Augmentation index
%, range 1-90
Measured: 4 months
Manual muscle testing score
Grade 0-5, higher is better
Measured: 4 months
Reactive hyperemia index
no units, 0-4 range, higher is worse
Measured: 4 months
Visual analog assessment of pain
no units, scale from 0-6, 6 is worse
Measured: 4 months
Single Leg Stance Test
seconds, higher is better
Measured: 4 months
Single limb squat test score
seconds, higher is better
Measured: 4 months
Star Excursion Balance Test
%, range 0-100, higher is better
Measured: 4 months
6M Timed Hop Test
milliseconds, range 1 to infinity, lower is better
Measured: 4 months
Scale for Child Anxiety Related Emotional Disorders (SCARED) (ages 12-18 y)
41 item scale, each with 3 point Likert scale, scale is summed, range 0-123, higher is worse
Measured: 4 months
Quality of Life Scale (QOLS) (ages 19-21 y)
16 items, each with 7 point Likert, higher is worse
Measured: 4 months
Pediatric Quality of Life Scale (PedsQL) scale scores
reported in 3 domains, each reported on Likert scale, scaled to 0-100 scale, lower is worse
Measured: 4 months
Children's Depression Inventory (CDI) 2 (ages 12-18 y)
28-item assessment that yields a Total Score, 2 scale scores, and 4 subscale scores. For each item, respondent is presented with 3 choices that correspond to 3 levels of symptomatology: 0 (absence of symptoms), 1 (mild or probable symptom), or 2 (definite symptom). Lower is better
Measured: 4 months
Depression, Anxiety, & Stress Scale (DASS) (ages 19-21 y)
set of 3 self-report scales. Each scale contains 14 items, each with a 4-point severity/frequency scale, higher is worse
Measured: 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Nov 2020
- Study start9 Nov 2020
- Primary completion30 Oct 2022
- Study completion20 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe 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
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- The first part of trial was a Randomized Controlled Step-Wedge Pilot Trial as below 2 groups (Exercise Intervention Group and Current Care Group) The first phase of the study will maintain the Current Care Group as the control. At the end of the first phase, the Current Care Group will crossover and receive the Exercise Intervention as the second phase of the trial. With the COVID-19 pandemic causing delays in the study, and decreased enrollment and decreased access to MRI, the study was altered to a single group. comparing the same outcomes at baseline and after the intervention. This eliminates the blinding of the PI, but those interpreting the tests are still blinded.
- Masking
- None (open label)
- Enrolment
- 23 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- The Marfan Foundation
- Responsible party
- Principal investigator, Shaine Morris, Baylor College of Medicine
- Investigators
- Shaine A Morris, MD MPH, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04641325
- Sponsor's protocol ID
- H-45475
- Status last verified
- Aug 2023
- First submitted
- 23 Apr 2020
- Last updated
- 14 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluating the Effects of Moderate Physical Activity on Health and Well-being in Adolescents and Young Adults With Marfan Syndrome
- ClinicalTrials.gov ID
- NCT04641325
- Acronym / sponsor ID
- H-45475
- Conditions
- Marfan Syndrome
- Keywords
- Cardiovascular, Moderate Exercise, Physical Therapy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 23 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- The Marfan Foundation
- Study start
- 9 Nov 2020 (actual)
- Primary completion
- 30 Oct 2022 (actual)
- Study completion
- 20 Dec 2022 (actual)
- First posted
- 23 Nov 2020 (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) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities. The lack of exercise and deconditioning have detrimental effects including increasing weakness, joint pain, decreased endurance, and depressive symptoms. Given the significant paucity of data currently existing on the effects of exercise in humans with MFS, and the recent, optimistic findings in rodent models, this pilot trial was established to assess the effects of moderated dynamic exercise in adolescents and young adults with MFS.
Detailed description
Marfan syndrome (MFS) affects multiple organ systems including the heart, bones, ligaments, and eyes, and is associated with significant risk of aortic dissection. Given anecdotal reports of aortic dissection, limited evidence from in-vitro studies, and theoretical concerns, the majority of patients with MFS are restricted from certain physical activities, most commonly isometric exercise and contact sports. Published guidelines also suggest restriction from highly dynamic competitive sports. While clinicians may mean to restrict patients only from competitive sports, often children and families interpret this caution as applying to almost all exercise, resulting in a large number of patients with Marfan syndrome being sedentary. This lack of exercise and deconditioning likely have detrimental effects in increasing weakness and joint pain and decreasing endurance. Depressive symptoms are also not uncommon in Marfan syndrome, and may be triggered or exacerbated by guidance to acutely cease participation in sports at the time of diagnosis.
To date, as far as the investigators are aware, there are no published controlled studies on the effects of dynamic exercise on human subjects. In 2017, Mas-Stachurska et al published a study suggesting that a moderate level of dynamic exercise mitigated progressive degradation of the cardiac structures typically seen in Marfan Syndrome in a rodent sample. This study suggests the possibility that the fears surrounding moderate exercise in humans may be unwarranted. In addition, this study suggests that moderate exercise may actually protect the aorta and myocardium, in addition to the numerous other physical and emotional benefits that have been shown to result from consistent exercise. The overall goal is to evaluate the effects of a moderate dynamic exercise program on measures of cardiovascular, muscular, and mental health in adolescents and young adults with Marfan syndrome. The investigators plan to perform a randomized pilot study to calculate effect estimates to perform a larger multi-center study. The objective is to 1) randomize 20 patients with Marfan syndrome age 12-21 years to current status (controls) versus a moderate dynamic exercise intervention, then 2) allow the control group patients to undergo the exercise intervention. The investigators will then compare outcomes between both the intervention and control groups, and between the baseline and post-intervention states. Specific outcome measures will include cardiovascular assessment: maximal oxygen uptake (max VO2), segmental and central aortic stiffness, ventricular mass and volume, and endothelial function, muscular/physical assessment: manual muscle testing (MMT), functional balance, and pain assessment, and quality of life/mental health assessment: health-related quality of life, depression and anxiety screening scales. The hypothesis is that the intervention of a moderate exercise program introduced by a licensed physical therapist will result in improvement in cardiovascular status, muscular health, and mental health without detrimental effects on the aortic wall.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- The first part of trial was a Randomized Controlled Step-Wedge Pilot Trial as below 2 groups (Exercise Intervention Group and Current Care Group) The first phase of the study will maintain the Current Care Group as the control. At the end of the first phase, the Current Care Group will crossover and receive the Exercise Intervention as the second phase of the trial. With the COVID-19 pandemic causing delays in the study, and decreased enrollment and decreased access to MRI, the study was altered to a single group. comparing the same outcomes at baseline and after the intervention. This eliminates the blinding of the PI, but those interpreting the tests are still blinded.
| Arm | Type | Receives |
|---|---|---|
| Exercise Intervention Group | Experimental | Other: Exercise Intervention GroupGroup of up to 20 patients will receive all of the preliminary outcome measure testing (cardiovascular, musculoskeletal, and psychological screening) in addition to exercise intervention education, demonstration, and follow up to ensure compliance and safety. |
Who may qualify
- Ages
- 12 to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- Must be between the ages of 12-21
- Diagnosis of Marfan Syndrome
- Must not have other conditions that limit the patients ability to perform exercise
Key exclusion criteria (2 listed)
- Patients who have undergone aortic surgery
- Patients with major congenital heart disease
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 |
|---|---|---|
| Exercise Intervention GroupPatients will be educated on methods of self-evaluating exertion and cardiovascular effort by assessing respiratory rate and perceived exertion. Next, patients will be given options for cardiovascular activities and complete at a moderate level of activity for a minimum of 150 minutes per week. Patients will perform a combination of exercises under the supervision of a physical therapist until a mod intensity level is reached and sustained. Patients will be taught to use the activity tracker to record their heart rate, activity, and PES. Patients will have a phone call every week to assess status, answer questions, and provide guidance on progressing intensity or duration of exercise. At the end of 8 weeks all patients will return for re-assessment. | Other | Exercise Intervention Group |
Primary outcome
Maximum VO2
Time frame: 4 months
Maximum VO2 in ml/kg/minute will be collected via Exercise Stress Test. Range 30-85, higher is better.
27 secondary outcomes
Mean systolic blood pressure
Time frame: 4 months
Mean Diastolic blood pressure
Time frame: 4 months
Mean pulse pressure
Time frame: 4 months
Weight
Time frame: 4 months
BMI
Time frame: 4 months
Left ventricular strain by cardiac MRI
Time frame: 4 months
Right ventricular strain by cardiac MRI
Time frame: 4 months
Aortic root strain
Time frame: 4 months
Aortic Root Distensibility
Time frame: 4 months
Aortic Root β-Stiffness index
Time frame: 4 months
Maximum aortic root dimension
Time frame: 4 months
Aortic root z-score
Time frame: 4 months
Aortic pulse wave velocity from MRI
Time frame: 4 months
Pulse wave velocity derived from applanation tonometry
Time frame: 4 months
Augmentation index
Time frame: 4 months
Manual muscle testing score
Time frame: 4 months
Reactive hyperemia index
Time frame: 4 months
Visual analog assessment of pain
Time frame: 4 months
Single Leg Stance Test
Time frame: 4 months
Single limb squat test score
Time frame: 4 months
Star Excursion Balance Test
Time frame: 4 months
6M Timed Hop Test
Time frame: 4 months
Scale for Child Anxiety Related Emotional Disorders (SCARED) (ages 12-18 y)
Time frame: 4 months
Quality of Life Scale (QOLS) (ages 19-21 y)
Time frame: 4 months
Pediatric Quality of Life Scale (PedsQL) scale scores
Time frame: 4 months
Children's Depression Inventory (CDI) 2 (ages 12-18 y)
Time frame: 4 months
Depression, Anxiety, & Stress Scale (DASS) (ages 19-21 y)
Time frame: 4 months
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 14 Aug 2023.
- Individual participant dataSharing planned: No
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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.
Shaine A Morris, MD MPH principal investigator
Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Exercise Intervention Group in people with Marfan Syndrome, run by Baylor College of Medicine at 1 site in United States.
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 14 Aug 2023. 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 United States. 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?
Maximum VO2 (time frame: 4 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 14 Aug 2023; AzTrials last refreshed its copy on 29 Oct 2026.