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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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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

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.