Actively Recruiting
Study of Genetic and Clinical Features in Children and Adults With RASopathies to Understand Cancer Risks and Other Health Issues
Led by National Cancer Institute (NCI) · Updated on 2026-07-07
500
Participants Needed
2
Research Sites
208 weeks
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals of any age with a clinical diagnosis of a RASopathy such as Costello syndrome, Noonan syndrome, or Cardiofaciocutaneous syndrome
- Individuals with a pathogenic or likely pathogenic germline variant or a predicted damaging variant in a RASopathy-associated gene
- Family members of carriers may participate as controls
- All types and amounts of prior therapies are allowed
- Ability to provide informed consent or have an appropriate surrogate consent
You will not qualify if you...
- Individuals with only neurofibromatosis type 1 (NF1) diagnosis or pathogenic NF1 variant without another RASopathy
- First-degree relatives of individuals with only NF1
- Individuals unable to return for follow-up visits or obtain required follow-up studies as determined by the investigator
Research Team
N
NCI Family Study Referrals
D
Douglas R Stewart, M.D.
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