Scientists hunt for gene behind rare kidney cancer syndrome

NCT ID NCT00050752

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

First seen Jun 24, 2026 · Last updated Aug 05, 2026 · Updated 7 times

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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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.

CUTANEOUS LEIOMYOMA KIDNEY CANCER RENAL TUMOR HISTOLOGY

Contacts and locations

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

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