Actively Recruiting
Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Led by National Cancer Institute (NCI) · Updated on 2026-03-03
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 conditions caused by changes in genes related to the Ras/MAPK pathway. People with these conditions may experience developmental challenges, cognitive disabilities, poor growth, birth defects, and have a higher risk of certain cancers. Researchers are studying how genes and environmental factors contribute to cancer development and other health issues in people with RASopathies to improve early detection and prevention. Participants include children and adults diagnosed with or suspected to have a RASopathy, as well as their family members. The study involves collecting medical histories, reviewing medical records, and obtaining biological samples such as blood, urine, saliva, and cheek cell samples for genetic testing. Some participants may undergo additional tests like skin biopsies, physical exams by specialists, imaging scans including CT, ultrasound, bone density, MRI, and other functional tests. Consent is obtained for specific procedures as needed. Participation lasts indefinitely, with occasional follow-up visits or contacts by phone or mail. Researchers will monitor participants’ clinical features, cancer development, and other related health manifestations over time. The study also maintains a biospecimen repository for future research and aims to identify new features linked to RASopathy genetic variations. Outcome measures include ongoing clinical, genetic, and environmental evaluations.
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 with a clinical diagnosis of a RASopathy such as Costello syndrome, Noonan syndrome, or Cardiofaciocutaneous syndrome
- Individuals with a germline variant in a RASopathy-associated gene, including but not limited to BRAF, HRAS, KRAS, PTPN11, RAF1, and others
- Individuals with both NF1 and another RASopathy diagnosis are eligible
- Family members of carriers are eligible as controls
- No age or organ function restrictions
- Informed consent must be signed by participants or their surrogates
You will not qualify if you...
- Individuals with only neurofibromatosis type 1 (NF1) diagnosis or pathogenic NF1 variant without another RASopathy are excluded
- First-degree relatives of individuals with only NF1 are ineligible
- Individuals unable to return for follow-up visits or obtain required studies are excluded from the Clinical Center Cohort
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote) to confirm diagnosis and eligibility
Duration - Up to 10 years
Participants with RASopathies are observed over time to study the development of tumors and other related clinical features, and to collect biospecimens for research.
Regular visits depending on cohort assignment for clinical evaluations and sample collection
Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
National Cancer Institute - Shady Grove
Rockville, Maryland, United States, 20850
Actively Recruiting
Research Team
N
NCI Family Study Referrals
D
Douglas R Stewart, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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