RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Marfan Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Muscle stem cells produce a protective Fibrillin-1 matrix to prevent precocious activation.
Chrysostomou Eleni et al., Science advances (16 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42886795/
- 2.
Mitral annular disjunction is associated with markers of cardiomyopathy in pediatric Marfan syndrome.
Doan Khanh-Linh K et al., Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42880647/
- 3.
A cell death-independent role for MLKL in TGF-β receptor recycling in Marfan syndrome
Harshal Nemade et al., bioRxiv (Cold Spring Harbor Laboratory) (13 October 2026)
https://doi.org/10.64898/2026.10.09.757966
- 4.
Corneal Topography And Aberrometric Outcomes After Early Lensectomy With Retropupillary Iris-Claw Iol Implantation In Marfan Syndrome
Alessandra Cano et al., ESCRS Abstracts (10 October 2026)
https://doi.org/10.82333/zdkg-ej93
- 5.
Surgical Outcomes Of Lens Removal With Or Without Intraocular Lens Implantation In Marfan Syndrome: A Retrospective Cohort Study
Moustafa Magliyah et al., ESCRS Abstracts (9 October 2026)
https://doi.org/10.82333/ew4q-fr88
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Marfan Syndrome
Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vessels, eyes, and skeleton. People with Marfan syndrome are often tall and thin. Managing heart and aorta health is central to care.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Diverse biological mechanisms regulate muscle stem cell quiescence, including inhibition of differentiation, adhesion, and translational control. Here, we identify the matrix glycoprotein Fibrillin-1 (FBN1) as a Notch-regulated, cell-autonomous effector, essential for maintaining quiescence. Known for its causal role in Marfan syndrome (MFS), our work positions FBN1 as a critical niche component that protects muscle stem cells from aberrant growth factor signaling. Targeted deletion of Fbn1 in muscle stem cells leads to dose-dependent quiescence defects, characterized by loss of cellular projections, depletion of the stem cell pool, and progressive decline in muscle function. Consistently, human MFS muscle biopsies show abnormally activated satellite cells, implicating stem cell imbalance in the development of MFS-associated myopathy. Mechanistically, the loss of FBN1 up-regulates transforming growth factor-β (TGFβ) signaling, and pharmacological blockade of TGFβ signaling rescues the cellular and physiological defects of FBN1-deficient muscle. These findings reveal a new quiescence-preserving mechanism through extracellular matrix-mediated shielding from mitogenic signals and position stem cell dysfunction as a driver of MFS myopathy.
Common Questions
What is Marfan Syndrome?
Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vessels, eyes, and skeleton. People with Marfan syndrome are often tall and thin. Managing heart and aorta health is central to care.
How many clinical trials are available for Marfan Syndrome?
RareWays currently indexes 27 clinical trials for Marfan Syndrome, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Marfan Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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