RecruitingPhase 3NCT07221851
Connective Tissue
Noonan Syndrome
Also known as male Turner syndrome, NS, PTPN11/RAS-MAPK pathway
Noonan syndrome is one of the most common autosomal dominant conditions, caused by gain-of-function mutations in genes encoding components of the RAS-MAPK signalling pathway, with PTPN11 (encoding SHP-2 phosphatase) accounting for approxima
ORPHA:648 ↗Gene PTPN11Gene SOS1Gene RAF1Gene RIT1 (multiple)Prevalence 1 in 1,000–2,500Onset CongenitalGenetic — autosomal dominant (50% de novo)
14
studies recruiting now
as of 7 Sept 2026
52
studies registered in total
as of 7 Sept 2026
9
countries with a recruiting site
as of 7 Sept 2026
25 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT05361811
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
RecruitingPhase 2NCT06668805
A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
RecruitingNCT04888936
Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
RecruitingNot applicableNCT07493239
A Decentralized Clinical Study Evaluating the Effectiveness of Two Different Doses of MyCondro™ on Physical Mobility and Joint Health
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 14 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Noonan Syndrome
Noonan syndrome is one of the most common autosomal dominant conditions, caused by gain-of-function mutations in genes encoding components of the RAS-MAPK signalling pathway, with PTPN11 (encoding SHP-2 phosphatase) accounting for approximately 50% of cases. The phenotype includes characteristic facial dysmorphology, congenital heart defects (particularly pulmonary valve stenosis and hypertrophic cardiomyopathy), short stature with growth hormone axis dysregulation, and variable neurodevelopmental involvement. Individuals with RAF1 and RIT1 mutations carry a higher risk of hypertrophic cardiomyopathy, while PTPN11 mutations are associated with an increased risk of juvenile myelomonocytic leukaemia.
Common clinical features
Short stature with growth hormone insufficiency or resistancePulmonary valve stenosis or other congenital heart defectsHypertrophic cardiomyopathy (particularly with RAF1/RIT1 mutations)Characteristic facies: hypertelorism, ptosis, downslanting palpebral fissures, low-set earsWebbed neck and low posterior hairlineBleeding diathesis from coagulation factor deficiencies or platelet dysfunctionCryptorchidism in males and variable neurodevelopmental delay
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Simvastatin (Flolipid)
Phase 2Rinfabate
Phase 2Mecasermin (Bio-fd&c igf1)
Before you apply
Things trial teams commonly ask about for Noonan Syndrome. Not eligibility rules; those are set by each study.
- Current echocardiogram (within 12 months) documenting cardiac anatomy, valvular gradients, and LV wall thickness is a universal enrolment requirement — ensure this is performed by a paediatric or congenital cardiologist.
- Specific gene identification within the RAS-MAPK pathway is required by most trials, as therapies targeting MEK or SHP-2 have differential efficacy across genotypes.
- Growth records plotted on Noonan syndrome-specific growth charts, current height SDS, and prior or current growth hormone therapy history must be documented for trials with height or growth velocity endpoints.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).