Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Recruiting now
Conditions studied: Costello Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, Legius Syndrome, Capillary Arteriovenous Malformation Syndrome, RASopathy
In brief
Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more. Objective: To learn more about RASopathies, how genes and environmental factors contribute to cancer development in people with RASopathies, and the best way to find these cancers and other conditions early or prevent them. Eligibility: People of any age who have or may have a RASopathy, and their family members. Design: Participants will complete questionnaires about their personal and family medical history. Their medical records will be reviewed. Participants will give blood and urine samples. They will give a saliva or cheek cell sample. Some samples will be used for genetic testing. Participants may have a skin biopsy. Participants may have a physical exam by the RASopathies study team. They may also have exams by additional specialists, such as dentists; urologists; ear, nose, and throat doctors; and neurologists. Participants may have computed tomography of the face and mouth. They may have an ultrasound of the abdomen. They may have a bone density scan. They may have skeletal and/or spine x-rays. They may have magnetic resonance imaging of the brain, low back, chest, and/or heart. They may be photographed. Participants may have other tests, such as sleep, brain and heart electrical activity, speech and swallow, metabolism, hearing, eye, and colon function tests. Participants may sign separate consent forms for some tests. Participation will last indefinitely. Participants may be contacted once in a while by phone or mail. They may have follow-up visits.
Key facts
- Study ID
- NCT04888936
- Run by
- National Cancer Institute (NCI)
- People needed
- 500
- Starts
- 2022-04-25
- Expected to finish
- 2035-01-31
- Last updated by the study team
- 2026-07-07
Who can join
Age: 0 and older, up to 99. Sex: any. Healthy volunteers: accepted.
You may not qualify if…
- Carriers: An individual who meets any of the following criteria will be excluded from participation in this study:
- Individuals with only a diagnosis of NF1, or a newly identified germline pathogenic germline variant in NF1, and first-degree relatives of these patients are ineligible. However, individuals with a dual diagnosis of both NF1 and another RASopathy (via genetic testing and/or clinical diagnosis) are eligible for the study.
- Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.
- Controls: An individual who meets any of the following criteria will be excluded from participation in this study:
- -Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
- National Cancer Institute - Shady Grove — Rockville, Maryland, United States (enrolling)
Full record on ClinicalTrials.gov
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