Condition: Costello Syndrome · Noonan Syndrome · Cardiofaciocutaneous Syndrome · Sponsor: National Cancer Institute (NCI)
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 a…
This description comes directly from the study's public registry record.
NCI Family Study Referrals · (800) 518-8474 · ncifamilystudyreferrals@mail.nih.gov
Douglas R Stewart, M.D. · (240) 276-7238 · drstewart@mail.nih.gov
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| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
| National Cancer Institute - Shady Grove | Rockville, Maryland, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04888936