NOONAN SYNDROME

This study tests three doses of vosoritide in 30 children with Noonan syndrome who are still short despite growth hormone treatment. The main goal is to see if vosoritide can speed up growth over 6 months. Researchers will also monitor safety and long-term effects on height.

This study looks at whether Acceptance and Commitment Therapy (ACT) can help caregivers of children with RASopathies—a group of genetic conditions—manage parenting stress. About 70 adult caregivers will take part fully online, watching short videos and having coaching sessions ov…

This study aims to collect blood and urine samples from 100 children and adults with Noonan syndrome to create a biological collection for research. The goal is to better understand the disease and find factors that predict how it progresses. Participants provide extra samples du…

This study aims to learn more about a group of genetic conditions called RASopathies, which affect development and can cause heart defects, learning problems, and a higher risk of cancer. Researchers will collect blood, tissue, and medical information from up to 1,000 participant…

This study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, sex, or genetic cause. No treatment is given; the goal is to better understand health risks to im…

This study follows 500 people of all ages who have or may have a RASopathy—a group of genetic conditions that can cause developmental issues, birth defects, and higher cancer risk. Researchers will collect medical history, blood, urine, and genetic samples, and may perform imagin…

This study aims to improve how doctors diagnose and predict the course of rare heart muscle diseases (cardiomyopathies) using advanced MRI scans. Researchers will enroll 1000 people with suspected rare cardiomyopathies to test new imaging methods. The goal is to provide clearer, …