Scientists launch major study to unlock secrets of rare genetic conditions

NCT ID NCT04888936

First seen Oct 31, 2025 · Last updated Apr 24, 2026 · Updated 23 times

Summary

This study aims to learn more about RASopathies—a group of genetic conditions that can cause developmental issues, birth defects, and a higher risk of cancer. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for many years. Participants will provide medical history, blood, urine, and saliva samples, and may undergo various exams and scans. The goal is to better understand how genes and environment affect cancer and other health problems in this group.

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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.