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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
NCT04888936 · View on ClinicalTrials.gov ↗
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 Studied
Study Locations (2)
Maryland
- National Institutes of Health Clinical Center — Bethesda
- National Cancer Institute - Shady Grove — Rockville
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 500 participants |
| Start Date | 2022-04-25 |
| Est. Completion | 2035-01-31 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04888936
The ClinicalTrials.gov registry entry for NCT04888936 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 500 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Cancer Institute (NCI), which has 2,390 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 6 conditions, with Noonan Syndrome appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT04888936 reports 2 study locations spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT04888936 about?
NCT04888936 is a clinical study titled "Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies". 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...
What is the current status of trial NCT04888936?
This trial is currently recruiting. The enrollment target is 500 participants. The study started on 2022-04-25. Estimated completion is 2035-01-31.
What conditions does trial NCT04888936 study?
This clinical trial studies the following conditions: Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Capillary Arteriovenous Malformation Syndrome. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT04888936?
This trial is sponsored by National Cancer Institute (NCI), which has 2,390 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT04888936 being conducted?
This trial has 2 study locations across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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