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

NCT04888936 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-03-03

No results posted yet for this study

Summary

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.

Conditions

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

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Douglas R Stewart, M.D. · National Cancer Institute (NCI)

Eligibility

Min Age
1 Month
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-04-25
Primary Completion
2031-01-31
Completion
2035-01-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04888936 on ClinicalTrials.gov