Marfan syndrome is a genetic disorder affecting connective tissue throughout the body — the heart, aorta, eyes, and skeleton are most commonly involved. It is caused by mutations in the FBN1 gene and affects roughly 1 in 5,000 people. Most people with Marfan syndrome lead normal lives with regular monitoring and medication, though lifelong cardiovascular care is essential to prevent aortic complications.
What's actually going on in research
Most trials focus on protecting the aorta — the main artery that enlarges and can rupture in Marfan syndrome. Studies compare blood pressure medications (beta-blockers vs. losartan) and test whether earlier surgical repair improves outcomes. NCT05577754, based at CHRU Brest, is enrolling adults to track aortic progression under real-world treatment conditions. Researchers are also examining TGF-beta pathway inhibition, the molecular mechanism driving Marfan's connective tissue changes, as a potential drug target.
Aortic protection drugs
Losartan and beta-blockers are the main medications studied for slowing aortic root enlargement. Trials are comparing them head-to-head to establish which works better and at what doses.
Surgical timing studies
The right moment for preventive aortic root surgery depends on diameter, age, and growth rate. Registry-based studies are sharpening the thresholds surgeons use to decide when to intervene.
TGF-beta pathway research
Marfan syndrome disrupts the TGF-beta signaling pathway in connective tissue. Early research is exploring drugs that directly target this pathway as a way to address the disease's underlying mechanism.
What to know before you search
Most trials require a confirmed Marfan syndrome diagnosis — either through genetic testing showing an FBN1 mutation or meeting clinical criteria — and many specify a minimum aortic root diameter at enrollment.
What types of trials are currently open
- Aortic medication trials — Comparing beta-blockers and ARBs like losartan to slow aortic root dilation and reduce the risk of rupture or dissection.
- Surgical timing studies — Tracking aortic dimensions over time to determine the optimal diameter threshold for recommending preventive aortic root surgery.
- Natural history registries — Large studies following people with Marfan syndrome for years to understand how complications develop and what predicts individual risk.
- TGF-beta inhibition — Early-stage studies testing drugs that block the TGF-beta signaling pathway, which drives the connective tissue changes underlying Marfan syndrome.
Recently added Marfan Syndrome trials
PregnAncy-Related Aortic DISsEction in China
A multicenter observational study on pregnancy-related aortic dissection
Donate samples to help establish a sustainable rare disease research network
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000. RDs are complex and often need special treatments, thus combined efforts are required to address them to improve diagnosis, care and prevention. To date, over 6.000 RDs are known and most of them are \"orphans\". They do not have a market large enough to gather support to sustain research and discover treatments. Most RDs are disabling, incurable, painful and cause great suffering. Their complexity and heterogeneity often make diagnosis difficult; 25% of RD patients experience a diagnostic delay of 5 to 30 years and this has important implications for patient care. Thus, new diagnostic and therapeutic strategies are urgently needed. RDs registries are increasingly recognized as an effective tool to advance RD research. They are necessary to bring together patients and to pool data to achieve a sufficient sample size to facilitate epidemiological and/or clinical research. It is well known that registries are more effective when annexed to biobank infrastructure since make an important contribution to identify and validate biomarkers, uncover novel genes, elucidate pathogenesis at the Omics level, and develop new therapeutic strategies. Biobanks serve as biological samples and related clinical data repositories from affected patients and from undiagnosed patients experiencing with the \"diagnostic odyssey\", with the view of a retrospective diagnosis. The aim of creating a biobank is to make available a significant number of well-characterized and properly preserved samples and related data, to the scientific community for large-scale studies. Indeed, the recent advances in the technology of molecular biology and genetics require a large number of properly preserved biospecimens. This is certainly facilitated by building biobank networks. To this regard, in Italy, the collection of RDs samples is fragmented. The existing RD biobanks are of small or medium-size. They are stand-alone collections since only a limited networking among these infrastructures has been organized up to now. The objectives of this project will be: Aim 1: Establishment of the Scattered RD Biobank as a network of RD biobanks in order to overcome RD biological sample scarcity and to collect samples and data of high quality available to the scientific community for future collaborative studies in national and international co-operations Aim 2: Harmonization, Standardization and Network Governance. According to the document ISO 20387 illustrating the general requirements for biobanking, Standard Operating Procedures (SOPs) will be defined to ensure that every biobank in the network strictly follows the entire processes of collection, preparation, storage and distribution of biological material as well as related information and data. Common data bases and ethical/legal documents will be also generated. Aim 3: RD biobank upgrading and creation of novel RD biobanks. Already existing RD biobanks will be implemented in terms of organization of the sample collections according to the common SOPs and of extension of the sample collections and novel RD biobanks will be created such as Huntington\'s disease (OU3 and OU4), Marfan Syndrome, Hereditary Angioedema and Congenital Heart Diseases (OU1) biobanks. All the OU participating to this project are Reference Centre or Biological Research Centre (BRC) for RDs.
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