Study of Genetic and Clinical Features in Children and Adults With RASopathies to Understand Cancer Risks and Other Health Issues

What this Trial Is About

RASopathies are a group of genetic disorders caused by changes in genes that affect the RasMAPK pathway. People with RASopathies may experience developmental problems, cognitive disabilities, poor growth, birth defects, and an increased risk of certain cancers. Researchers aim to learn more about how genes and environmental factors contribute to cancer development and other health issues in individuals with these disorders. Participants include people of all ages who have or may have a RASopathy, as well as their family members. The study is observational and involves collecting detailed personal and family medical histories through questionnaires and reviewing medical records. Participants may provide blood, urine, saliva, or cheek cell samples for genetic testing, and some may have additional tests such as skin biopsies, physical exams, imaging scans, and specialist evaluations. Participation will last indefinitely, with occasional contact by phone or mail and possible follow-up visits. Researchers will monitor various health aspects, including cancer development and other RASopathy-related conditions, using standardized evaluations, biospecimen repositories, and assessments of new clinical features. The study aims to improve understanding of RASopathies and inform cancer screening recommendations for those affected.

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies