Scientists hunt for gene behind rare kidney cancer syndrome

NCT ID NCT00050752

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to uncover the genetic causes of hereditary leiomyomatosis renal cell cancer (HLRCC), a condition that can lead to painful skin bumps, uterine fibroids, and kidney tumors. Researchers will study people with known or suspected HLRCC and their family members to identify gene mutations and understand how kidney tumors develop. Participants undergo medical exams, blood tests, scans, and genetic analysis, but will not receive individual genetic results as their meaning is still unknown.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this research could identify the gene changes that cause HLRCC and clarify who is at risk for kidney cancer, potentially guiding future screening or prevention strategies.

What could go wrong

This is an observational study, not a treatment trial. It may take years to gather enough data, and findings may not directly lead to new therapies or immediate clinical changes.

Disclaimer Read more

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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Conditions

The condition(s) this trial relates to.

hereditary leiomyomatosis and renal cell cancer kidney cancer leiomyoma leiomyoma cutis

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-••••