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Marfan syndrome
MONDO:0007947A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.
Also known as: MFS, MFS1, Marfan syndrome, Marfan syndrome type 1, Marfan syndrome, type 1, Marfan's syndrome
64 clinical trials for this condition and its sub-types.
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Broader categories
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Can an online course keep arthritis patients working?
Symptom relief OngoingThis study tests an online program designed to help people with inflammatory arthritis remain employed. The program includes eLearning modules, group video sessions, and consultations with an occupational therapist and vocational counselor. About 528 participants from three Canad…
Phase: NA • Sponsor: University of British Columbia • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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Marfan syndrome in kids: new study looks beyond the physical symptoms
Knowledge-focused OngoingThis study observes 80 children with Marfan syndrome to understand how the condition impacts their quality of life, self-image, and ability to manage their health. Participants fill out questionnaires about their well-being and medication habits. The goal is to identify who might…
Sponsor: IRCCS Policlinico S. Donato • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Blood test may predict aneurysm surgery need in marfan patients
Knowledge-focused OngoingThis study looks for biological markers in the blood and tissue of adults with Marfan syndrome that could signal when an aortic aneurysm is dangerous enough to require surgery. Researchers will compare three groups of Marfan patients: those without aortic aneurysms, those with st…
Sponsor: IRCCS Policlinico S. Donato • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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New registry aims to unlock mysteries of Pregnancy-Related aortic tears
Knowledge-focused ENROLLING_BY_INVITATIONThis study is a national registry in China that will track 500 women who experience an aortic dissection (a tear in the main artery) during pregnancy or within 12 weeks after giving birth. Researchers will collect information on treatments and outcomes for both mothers and babies…
Sponsor: DeltaHealth Hospital · Shanghai • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Weekly Check-Ins could boost patient satisfaction for chronic pain
Knowledge-focused TerminatedThis study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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Skin cells may reveal secrets of deadly aortic bulges
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins …
Sponsor: IRCCS Policlinico S. Donato • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:39 UTC
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Can a special clinic get workers back on the job faster? norway launches massive study.
Knowledge-focused OngoingThis study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Massive PT study mines 4 million records to find what works best
Knowledge-focused OngoingThis study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …
Sponsor: ATI Holdings, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Phone app vs. doctor: can a mobile tool catch infections after surgery?
Knowledge-focused TerminatedThis study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Scientists hunt for hidden genes behind aortic aneurysms
Knowledge-focused OngoingThis study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Scientists probe muscle secrets in rare connective tissue disorders
Knowledge-focused OngoingThis observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…
Sponsor: IRCCS Policlinico S. Donato • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:50 UTC