Noonan Syndrome (NS) Clinical Trials and Treatments

Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in genes regulating the RAS/MAPK signaling pathway (PTPN11 accounting for ~50% of cases, SOS1, RAF1, RIT1, BRAF, KRAS, and others), making it a primary RASopathy. The condition is characterized by distinctive craniofacial features including hypertelorism (widely spaced eyes), short philtrum, micrognathia (small jaw), and low-set, posteriorly rotated ears. Short stature is present in ~80% of patients, though growth velocity is usually normal and growth hormone responsiveness varies.

The most common symptoms of Noonan Syndrome include Characteristic facial features (hypertelorism, low-set ears, micrognathia), Short stature, Cardiac defects (pulmonary stenosis, hypertrophic cardiomyopathy), Developmental and learning delays, Bleeding tendency and platelet dysfunction, among others. Noonan Syndrome affects approximately 1 in 1,000 to 2,500 people; one of the most common genetic syndromes. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Noonan Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Multidisciplinary care addresses multiple organ system manifestations: cardiology for echocardiographic screening, ongoing surveillance of structural defects, and management of arrhythmias or heart failure if present; endocrinology for growth monitoring and consideration of growth hormone therapy if growth velocity is significantly impaired or final height is predicted to be <-2 SD; developmental pediatrics for developmental screening and early intervention services. Growth hormone therapy may improve height outcomes in approximately 70% of patients, particularly when initiated before age 4-6.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Noonan Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Noonan Syndrome is caused by variants in any of many genes, most often PTPN11, SOS1, RAF1, RIT1, KRAS and LZTR1. PTPN11 accounts for about half of cases and SOS1 another 10-15%; a RASopathy panel is standard and 15-20% of patients have no identified variant.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 1,000 to 2,500 people; one of the most common genetic syndromes. A multigene panel identifies the cause in most families.

Yes. Noonan Syndrome can be caused by variants in many different genes (PTPN11, SOS1, RAF1, RIT1, KRAS and LZTR1 are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. PTPN11 accounts for about half of cases and SOS1 another 10-15%; a RASopathy panel is standard and 15-20% of patients have no identified variant.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Noonan Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Noonan Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.