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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Custom stent grafts offer new hope for High-Risk aneurysm patients
Disease control Recruiting nowThis study is testing whether custom-made or physician-modified stent grafts can safely repair complex aortic aneurysms in people who cannot use standard devices or undergo open surgery. The grafts are tailored to each patient's anatomy, with small holes to keep blood flowing to …
Phase: NA • Sponsor: Andres Schanzer • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Shingles vaccine put to the test in frail patients
Prevention Recruiting nowThis study looks at how well the shingles vaccine works in people with weakened immune systems, such as those with cancer or autoimmune diseases. Researchers will measure immune responses and track side effects in 300 adults. The goal is to see if the vaccine can effectively prev…
Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Prevention
Last updated Jun 27, 2026 09:11 UTC
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Pre-Surgery breathing workouts may speed recovery after joint surgery
Symptom relief Recruiting nowThis study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 12:33 UTC
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Exercise program aims to boost endurance in kids with marfan syndrome
Symptom relief Recruiting nowThis study tests whether a 6-month adapted physical activity program can improve endurance in children and teenagers with Marfan syndrome. About 30 participants aged 7 to 17 will take part. The program focuses on safe, tailored exercises to help them be more active without puttin…
Phase: NA • Sponsor: University Hospital, Toulouse • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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Teachers get relief: exercise and ergonomics trial aims to ease aches and pains
Symptom relief Recruiting nowThis study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…
Phase: NA • Sponsor: Uskudar University • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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New app aims to put rehab strategies in Patients' hands
Symptom relief Recruiting nowThis study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…
Phase: NA • Sponsor: McMaster University • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
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New program aims to ease pain and curb opioid misuse for veterans
Symptom relief Recruiting nowThis study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.
Phase: NA • Sponsor: Yale University • Aim: Symptom relief
Last updated Jun 27, 2026 07:56 UTC
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Scientists launch study to unlock mysteries of rare bone diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The go…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Massive study tracks lung disease progression in 4,000 patients
Knowledge-focused Recruiting nowThis study follows 4,000 people with interstitial lung disease (including conditions like pulmonary fibrosis and sarcoidosis) to understand how the disease naturally changes over time. Researchers will collect medical data and blood samples, and compare them to a healthy control …
Sponsor: University of Chicago • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Albanian health scales get a scientific makeover
Knowledge-focused Recruiting nowThis study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…
Sponsor: Universidad Católica San Antonio de Murcia • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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New dashboard aims to reduce guesswork in muscle and joint care
Knowledge-focused Recruiting nowThis study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…
Phase: NA • Sponsor: University College, London • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Brazil launches massive heart gene hunt to unlock hereditary mysteries
Knowledge-focused Recruiting nowThis study is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often the…
Sponsor: Hospital do Coracao • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Researchers investigate why some patients skip home rehab exercises
Knowledge-focused Recruiting nowThis study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…
Sponsor: Konya Beyhekim Training and Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Marfan mystery: scientists launch biobank to predict disease progression
Knowledge-focused Recruiting nowThis study aims to create a collection of blood and urine samples from 300 people with Marfan syndrome or related conditions. Researchers will use these samples to study how the disease works and find clues that might predict how it will progress. Participants provide extra sampl…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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New study tracks pregnancy dangers in rare vascular conditions
Knowledge-focused Recruiting nowThis study follows 400 pregnant women with rare blood vessel diseases (like HHT, Marfan syndrome, or lymphedema) to learn about serious pregnancy complications. Researchers will ask participants about their health during pregnancy and for 12 months after birth. The goal is to gat…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:01 UTC
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Virtual reality could revolutionize shoulder therapy
Knowledge-focused Recruiting nowThis study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …
Phase: NA • Sponsor: Fondazione Policlinico Universitario Campus Bio-Medico • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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22,000 patients to help shape future of muscle and joint care
Knowledge-focused Recruiting nowThis study aims to create a secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …
Sponsor: Keele University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
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Spinal anaesthesia timing under the microscope for faster hospital discharge
Knowledge-focused Recruiting nowThis study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…
Sponsor: Nordsjaellands Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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Braces get a Tune-Up: study tests best heel cushion for easier walking
Knowledge-focused Recruiting nowThis study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…
Phase: NA • Sponsor: University of Iowa • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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3D printing could make bone surgery safer and faster
Knowledge-focused Recruiting nowThis study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…
Phase: NA • Sponsor: Istituto Ortopedico Rizzoli • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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Heart valve noise: does Pre-Surgery info help patients cope?
Knowledge-focused Recruiting nowThis study looks at people with a mechanical heart valve who hear a clicking noise from it. Researchers want to know if remembering information given before surgery about this noise affects their quality of life afterward. About 180 participants will answer questionnaires over th…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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Massive study tracks 4,000 Kids' implants for safety
Knowledge-focused Recruiting nowThis study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
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Scientists launch major data hunt for rare bone diseases
Knowledge-focused Recruiting nowThis study is building a registry of people with rare bone diseases (skeletal dysplasias) in Italy. Researchers will collect medical history, genetic data, and treatment details over time to better understand how these conditions progress. No experimental treatments are given; th…
Sponsor: Luca Sangiorgi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
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Real-World test gauges pain relief Devices' safety
Knowledge-focused Recruiting nowThis study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…
Sponsor: DJO UK Ltd • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
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Can a CT scan spot hidden lung damage in rheumatoid arthritis?
Knowledge-focused Recruiting nowThis study will examine chest CT scans from 500 adults with rheumatoid arthritis, connective tissue diseases, or idiopathic pulmonary fibrosis to better understand lung disease patterns. Researchers want to see which scan features are most common in rheumatoid arthritis-related i…
Sponsor: Azienda Unita Sanitaria Locale di Piacenza • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:11 UTC