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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT04888936
Status
Recruiting
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Conditions

  • Capillary Arteriovenous Malformation Syndrome
  • Cardiofaciocutaneous Syndrome
  • Costello Syndrome
  • Legius Syndrome
  • Noonan Syndrome
  • RASopathy

Eligibility Criteria

Sex
ALL
Age
1 Month - 99 Years
Healthy Volunteers
Accepted

Study Details

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 Dates

Start date
Apr 25, 2022
Status verified
Jun 2026
Primary completion
Jan 31, 2031
Completion
Jan 31, 2035

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: NCI RASopathies Clinical Center Cohort
    includes Proband, Other carriers in family, Family Controls
  • Arm: NCI RASopathies Field Cohort
    includes Proband, Other carriers in family, Family Controls

Primary Outcome Measure

RASopathy Syndromes [ Time Frame: ongoing ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
888-624-1937
National Cancer Institute - Shady GroveRockvilleMaryland20850-

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By research site
National Institutes of Health Clinical Center· Bethesda, MDNational Cancer Institute - Shady Grove· Rockville, MD

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