Exercise for Marfan Syndrome

Overseen By Jennifer Bogardus, PT, MPT, PhD

Age: < 65

Sex: Any

Trial Phase: Academic

Sponsor: Baylor College of Medicine

Disqualifiers: Aortic surgery, Spinal surgery, Congenital heart disease, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

Duration: 16 weeks

50 Participants Needed

Trial Summary

What is the purpose of this trial?

Marfan syndrome (MFS) is a distinctive connective tissue disorder that 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.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

What data supports the effectiveness of this treatment for Marfan Syndrome?

Research shows that a personalized home-based exercise program improved quality of life, fitness, and muscle power in Marfan Syndrome patients. Additionally, a study found that a simple physical activity intervention could slow the rate of aortic root dilation in pediatric patients with Marfan Syndrome. ^{1 2 3 4 5}

Is exercise safe for people with Marfan syndrome?

Recent studies suggest that low to moderate intensity exercise is generally safe for people with Marfan syndrome, and there is no evidence that it worsens symptoms or increases mortality. However, it's important to follow specific guidelines and consult with healthcare providers before starting any exercise program. ^{1 2 4 5 6}

How does the exercise treatment for Marfan Syndrome differ from other treatments?

The exercise treatment for Marfan Syndrome is unique because it involves moderate dynamic exercise, which is generally discouraged for Marfan patients due to concerns about heart and blood vessel issues. However, recent studies suggest that moderate exercise can improve heart health and reduce aortic dilation, offering a new way to manage the condition without medication. ^{1 2 4 6 7}

Research Team

Shaine A Morris, MD, MPH

Principal Investigator

Baylor College of Medicine

Eligibility Criteria

This trial is for young individuals aged 10-25 with Marfan syndrome, which affects the body's connective tissue. Participants must meet specific diagnostic criteria and cannot have had aortic or spinal surgery, major heart defects (except some conditions like mitral valve prolapse), conditions that limit moderate exercise, or an aorta wider than 4.5 cm.

Inclusion Criteria

I am between 10 and 25 years old.

I have been diagnosed with Marfan syndrome.

Exclusion Criteria

I have had surgery on my aorta.

I do not have any major health issues that could affect the study's results.

My aorta is enlarged to 4.5 cm or more, needing surgery.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Assessment

Participants undergo preliminary outcome measure testing including cardiovascular, musculoskeletal, and psychological screening

1-2 weeks

Treatment

Participants in the exercise intervention group receive education, demonstration, and follow-up on moderate dynamic exercise

16 weeks

Regular follow-up visits to ensure compliance and safety

Follow-up

Participants are monitored for safety and effectiveness after treatment, including reassessment of all baseline procedures

4 weeks

Treatment Details

Interventions

• Control Group
• Exercise Intervention Group

Trial Overview The study examines how safe and effective moderated dynamic exercise is for adolescents and young adults with Marfan Syndrome. It compares an exercise intervention group to a control group that does not receive this intervention.

Participant Groups

Group I: Exercise Intervention Group Experimental Treatment 1 Intervention

Group of up to 50 patients will randomly allocated into an experimental group at a 4:1 ratio intervention to controls. The experimental group 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.

Group II: Control Group Experimental Treatment 1 Intervention

Control group will be randomly allocated at a 4:1 ratio, intervention to controls.. The control group will receive all of the preliminary outcome measure testing (cardiovascular, musculoskeletal, and psychological screening) and will be instructed to continue with baseline physical activities. They will be asked to return for a reassessment of all baseline procedures (cardiovascular, musculoskeletal, and psychological screening).

Who Is Running the Clinical Trial?

Baylor College of Medicine

Lead Sponsor

Trials

1,044

Recruited

6,031,000+

Southern Star Research Pty Ltd.

Industry Sponsor

Trials

14

Recruited

620+

Southern Star Research

Industry Sponsor

Trials

14

Recruited

630+

Findings from Research

A 3-month personalized home-based training program for patients with Marfan syndrome (MFS) showed a significant improvement of 50% in quality of life, cardiorespiratory fitness, and skeletal muscle power for those who completed the combined training.

The study involved at least 50 MFS patients who participated in telemonitored training sessions, suggesting that structured physical activity can be a beneficial alternative for managing MFS and enhancing patient well-being.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study. Jouini, S., Milleron, O., Eliahou, L., et al.[2021]

Recent recommendations suggest that low-intensity physical activity (PA) can be beneficial for patients with Marfan syndrome (MFS), despite previous guidelines advising against exercise.

While moderate aerobic or weight training does not appear to worsen symptoms or increase mortality in MFS patients, high-intensity exercise (75-85% of maximal oxygen uptake) may have harmful effects, although this has primarily been observed in animal studies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Is physical activity a future therapy for patients with Marfan syndrome? Jouini, S., Milleron, O., Eliahou, L., et al.[2022]

Subjects with Marfan syndrome showed increased lung volumes but reduced peak oxygen uptake compared to healthy individuals, indicating compromised pulmonary function despite larger lung capacity.

Most participants could complete a maximal exercise test without serious complications, but their reduced aerobic capacity suggests a need for tailored exercise guidelines to improve fitness and monitor changes with age.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Pulmonary function, working capacity and strength in young adults with Marfan syndrome. Giske, L., Stanghelle, JK., Rand-Hendrikssen, S., et al.[2019]

A 6-month physical activity intervention involving 24 pediatric patients with Marfan syndrome showed that increasing daily steps can significantly reduce the rate of aortic root dilation compared to a control group, suggesting a potential protective effect against aortic complications.

The study demonstrated that the intervention was feasible, with participants averaging 7709 steps per day, indicating that simple lifestyle changes can positively impact cardiovascular health in young patients with Marfan syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome? Selamet Tierney, ES., Chung, S., Stauffer, KJ., et al.[2023]

A 3-week inpatient rehabilitation program for patients with Marfan syndrome was found to be safe, with no adverse medical events reported, and resulted in significant improvements in physical fitness and psychological wellbeing.

Participants showed marked enhancements in mental health, vitality, and physical performance, with benefits persisting for at least one year after the program, indicating the program's effectiveness.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study. Benninghoven, D., Hamann, D., von Kodolitsch, Y., et al.[2018]

In a study using a transgenic mouse model of Marfan syndrome, moderate dynamic exercise over 5 months significantly reduced the rate of aortic root dilation compared to sedentary mice, suggesting a protective effect against cardiovascular complications.

Exercise also led to regression of cardiac hypertrophy in Marfan syndrome mice, indicating that moderate physical activity may help manage some aspects of the cardiovascular phenotype associated with this condition.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model. Mas-Stachurska, A., Siegert, AM., Batlle, M., et al.[2022]

In a study using a mouse model of Marfan syndrome, regular low-intensity exercise (55-65% V̇o2max) was found to improve aortic wall structure and function, potentially reducing the risk of aortic aneurysm, which is a major concern for patients with this condition.

The beneficial effects of exercise were linked to a decrease in the expression of matrix metalloproteinases, which are enzymes that can damage the aortic wall, highlighting the importance of moderate exercise in managing Marfan syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm. Gibson, C., Nielsen, C., Alex, R., et al.[2018]

References

1. Japan pubmed.ncbi.nlm.nih.gov

Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Is physical activity a future therapy for patients with Marfan syndrome? [2022]

3. Sweden pubmed.ncbi.nlm.nih.gov

Pulmonary function, working capacity and strength in young adults with Marfan syndrome. [2019]

4. England pubmed.ncbi.nlm.nih.gov

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome? [2023]

5. England pubmed.ncbi.nlm.nih.gov

Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study. [2018]

6. England pubmed.ncbi.nlm.nih.gov

Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model. [2022]

7. United States pubmed.ncbi.nlm.nih.gov

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm. [2018]