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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Noonan 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.
Targeting Interleukin-8-Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan Syndrome.
Fell Jakob et al., Circulation (6 October 2026)
https://pubmed.ncbi.nlm.nih.gov/41988707/
- 2.
Rigosertib Reverses Hypertrophic Cardiomyopathy in Noonan Syndrome.
Legler Levi et al., Circulation (6 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42610277/
- 3.
An unusually severe hemorrhagic phenotype leading to prolonged diagnostic delay in PTPN11 variant Noonan syndrome
Tasnim Nusrat et al., Journal of Association of Clinical Endocrinologist and Diabetologist of Bangladesh (5 October 2026)
https://doi.org/10.3329/jacedb.v5i20.93947
- 4.
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease.
Sheyanth Inger Norlyk et al., American journal of medical genetics. Part A (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42071173/
- 5.
Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.
Akbaş Esma Nur Konur et al., Clinical genetics (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42472986/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
NCT06668805 · Active (not recruiting) · Phase 2 · BioMarin Pharmaceutical
Ages 3 to 11
https://clinicaltrials.gov/study/NCT06668805
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.
Noonan Syndrome
Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It causes distinctive facial features, short stature, heart defects, and developmental delays. It is the second most common syndromic cause of congenital heart disease. MEK inhibitor research is advancing.
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
BACKGROUND: Genetic variants in components or regulators of the RAS-mitogen-activated protein kinase (RAS-MAPK) signaling pathway are causative for severe and early-onset hypertrophic cardiomyopathy (HCM) in patients with Noonan syndrome (NS). Despite paracrine communication being considered to play a pivotal role in the etiology of cardiomyopathies, there is a paucity of knowledge about the underlying pathomechanism that leads to the development of HCM and cardiac fibrosis in NS. METHODS: To dissect the impact of noncardiomyocytes in the development of NS, we employed two-dimensional and three-dimensional human induced pluripotent stem cell models of LZTR1 deficiency alongside induced pluripotent stem cells derived from patients with NS with pathogenic variants in key RAS-MAPK genes and analyzed these cells and tissues at the molecular, cellular, and functional levels. RESULTS: Our findings revealed that cytokine-mediated cellular crosstalk between cardiac fibroblasts and cardiomyocytes, predominantly activated in the disease state, serves as a primary driver of the disease. Cardiac fibroblast-specific IL-8 (interleukin-8) secretion induced fibrosis-related signatures, tissue stiffness, cardiomyocyte hypertrophy, and hypercontractility, identifying dysregulated IL-8 as a heart-autonomous signaling molecule independent of inflammation and immune cell involvement. Inhibition of IL-8-CXCR1 signaling by reparixin reversed the pathological effects in cardiac fibroblasts and cardiomyocytes. CONCLUSIONS: These data provide evidence that targeting aberrant IL-8-CXCR1 signaling may be an effective therapeutic option for patients with NS-associated HCM.
Common Questions
What is Noonan Syndrome?
Noonan syndrome is a common genetic condition caused by mutations in RAS/MAPK pathway genes, most often PTPN11. It causes distinctive facial features, short stature, heart defects, and developmental delays. It is the second most common syndromic cause of congenital heart disease. MEK inhibitor research is advancing.
How many clinical trials are available for Noonan Syndrome?
RareWays currently indexes 19 clinical trials for Noonan Syndrome, of which 2 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 Noonan 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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