Scientists launch major study to unlock secrets of rare genetic conditions

NCT ID NCT04888936

Recruiting now Knowledge-focused Sponsor: National Cancer Institute (NCI) Source: ClinicalTrials.gov ↗

First seen Oct 31, 2025 · Last updated Apr 30, 2026 · Updated 24 times

Summary

This study follows 500 people of all ages who have or may have a RASopathy—a group of genetic conditions that can affect development and raise cancer risk. Researchers will collect medical history, blood, urine, and saliva samples, and may perform imaging and specialist exams. The goal is to better understand how genes and environment influence cancer and other health issues in this group, but no treatment or cure is being tested.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••
Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Cancer Institute - Shady Grove
RECRUITING

Rockville, Maryland, 20850, United States
National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

Contact Phone: •••-•••-••••

Conditions

Explore the condition pages connected to this study.

CAPILLARY ARTERIOVENOUS MALFORMATION SYNDROME CARDIOFACIOCUTANEOUS SYNDROME CARDIOFACIOCUTANEOUS SYNDROME COSTELLO SYNDROME COSTELLO SYNDROME LEGIUS SYNDROME LEGIUS SYNDROME NOONAN SYNDROME RASOPATHY