NOONAN SYNDROME

This study is testing whether a drug called vosoritide can help children with Turner syndrome, SHOX deficiency, or Noonan syndrome grow taller. It's for kids aged 3-12 who haven't grown enough despite receiving standard growth hormone treatment. Researchers will compare three dif…

This study is testing if a type of therapy called Acceptance and Commitment Therapy (ACT) can help parents and guardians better manage the stress of caring for a child with a rare genetic condition known as a RASopathy. The 8-week program is done completely from home using a smar…

This study aims to create a collection of blood and urine samples from people with Noonan syndrome. The goal is to help researchers better understand how the disease works and find biological signs that might predict how severe it could become. The samples will be used for future…

This study is testing whether advanced heart imaging techniques can improve how doctors diagnose and predict risks for rare heart muscle diseases. Researchers will use special heart scans to create detailed pictures of participants' hearts, looking for patterns that might help id…

This study aims to learn more about a group of rare genetic conditions called RASopathies. Researchers will follow 500 people with these conditions and their family members over many years to understand their health challenges, especially their risk of developing cancer. The goal…

This study aims to better understand a group of rare genetic conditions called RASopathies, which include Noonan Syndrome and Neurofibromatosis. Researchers will collect blood, tissue, and health information from up to 1,000 participants who have or are suspected of having one of…