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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores the effects of moderated dynamic exercise on individuals with Marfan syndrome, a condition affecting connective tissues that can impact the heart, bones, and eyes. The researchers aim to determine if exercise can alleviate symptoms like weakness and joint pain, common in those with Marfan syndrome. Participants will be divided into two groups: one will continue their usual activities (Control Group), while the other will follow a specific exercise program (Exercise Intervention Group). Individuals aged 10 to 25 with a Marfan syndrome diagnosis, who have not undergone aortic or spinal surgery and can perform moderate exercise, are suitable candidates for this trial. As an unphased trial, this study provides a unique opportunity to enhance understanding of how exercise can improve life quality for those with Marfan syndrome.

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 prior data suggests that this exercise intervention is safe for individuals with Marfan syndrome?

Research has shown that moderate exercise is generally safe for people with Marfan syndrome. Recent studies have not found that moderate aerobic or weight training worsens symptoms or increases health risks. In fact, low to moderate exercise is recommended to help maintain a healthy lifestyle for those with this condition. While high-intensity sports are not advised, moderate exercise can be beneficial and well-tolerated by people with Marfan syndrome. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the exercise intervention for Marfan Syndrome because it explores a non-pharmacological approach to managing this genetic condition. Unlike traditional treatments that may focus on medications to manage symptoms and prevent complications, this approach emphasizes structured physical activity. The exercise intervention aims to improve cardiovascular, musculoskeletal, and psychological health, potentially offering a holistic benefit. By providing education, demonstration, and follow-up, this method ensures safety and compliance, making it a promising complement to existing care strategies.

What evidence suggests that exercise might be an effective treatment for Marfan syndrome?

This trial will compare the effects of exercise on individuals with Marfan syndrome (MFS). Research has shown that exercise might benefit people with MFS. In studies with mice having a similar condition, moderate exercise slowed the widening of the aorta, a major concern for those with MFS. Other studies suggest that moderate exercise does not worsen MFS symptoms or increase health risks. Instead, it might improve heart health and strength, and even boost mood and energy levels. While more research on humans is needed, these findings suggest that exercise could be safe and helpful for people with MFS. Participants in this trial will be divided into two groups: the Exercise Intervention Group, which will receive exercise intervention education and follow-up, and the Control Group, which will continue with baseline physical activities. ^{1 2 3 6 7}

Who Is on the Research Team?

Shaine A Morris, MD, MPH

Principal Investigator

Baylor College of Medicine

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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]

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]

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]

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]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT04641325?cond=(GELEOPHYSIC%20DYSPLASIA)%20OR%20(FBN1)&rank=8

NCT04641325 | Marfan Syndrome Moderate Exercise Pilot Specific outcome measures will include cardiovascular assessment: maximal oxygen uptake (max VO2), segmental and central aortic stiffness, ventricular mass and ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8832740/

Is physical activity a future therapy for patients with Marfan ... Furthermore, there is no evidence that moderate aerobic or weight training can worsen the disease symptoms and increase mortality of MFS ...

3. withpower.com withpower.com/trial/phase-arachnodactyly-6-2023-2d738

Exercise for Marfan Syndrome 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 ...

4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8630458/

Effects of a personalized home-based training program ... This experimental approach might be a new alternative way for MFS patients' care that may improve their QoL, cardiorespiratory fitness and skeletal muscle power ...

5. sciencedirect.com sciencedirect.com/science/article/pii/S1098360021016075

Marfan syndrome: improved clinical history results in ... Benefits of mild to moderate exercise include physical conditioning, improved bone density, and lowering of blood pressure at rest. However, potentially ...

6. ahajournals.org ahajournals.org/doi/10.1161/JAHA.117.006438?doi=10.1161/JAHA.117.006438

Cardiovascular Benefits of Moderate Exercise Training in ... Overall, regular physical exercise is recommended for a healthy lifestyle, but dynamic sports are strongly discouraged in MF patients.

7. researchgate.net researchgate.net/publication/361630195_The_Real_Benefits_of_Exercise_in_Marfan_Syndrome_Associated_Aortic_Dissection_base_on_FITT_Exercise_Prescription_Method

(PDF) The Real Benefits of Exercise in Marfan Syndrome ... This review discusses and provides exercise prescriptions for MS patients by prioritizing their safety. We designed an exercise prescription in ...