Scientists launch major study to unravel mysteries of rare genetic disorders
NCT ID NCT04888936
First seen Oct 31, 2025 · Last updated May 20, 2026 · Updated 29 times
Summary
This study follows 500 people of all ages who have or may have a RASopathy—a group of genetic conditions that can cause developmental issues, birth defects, and higher cancer risk. Researchers will collect medical history, blood, urine, and genetic samples, and may perform imaging and specialist exams. The goal is to better understand how genes and environment affect health and cancer development in these individuals, but no treatment or intervention is provided.
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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.
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
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Cancer Institute - Shady Grove
RECRUITINGRockville, Maryland, 20850, United States
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-••••
Conditions
Explore the condition pages connected to this study.