Back to search results

Observational Study of Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC)

This study is looking into Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC), a condition that can lead to skin bumps (cutaneous leiomyomas), uterine growths in women, and kidney tumors. Researchers want to understand what genetic changes (mutations) cause HLRCC and how these changes are linked to kidney cancer. They also aim to learn more about the types of kidney tumors that develop in people with HLRCC and how often they occur. You might be able to join if you or a family member are suspected or known to have HLRCC, for example, if you have cutaneous leiomyomas and kidney cancer, or multiple cutaneous leiomyomas. The study is ongoing and aims to enroll 1130 participants.

Study design
This is an observational study, meaning researchers will gather information about participants over time. It is designed to include 1130 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study measures outcomes on an ongoing basis, suggesting participants will be followed for an extended period.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00050752

Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer

Recruiting
Not specifiedAges 2+Observational
National Cancer Institute (NCI)
~1,130 participants
Updated 2026-09-16 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.
Measured over on-going
+5 more outcomes measured

Conditions

Renal Tumor Histology
Cutaneous Leiomyoma
Kidney Cancer

Explore related trials

Hereditary Leiomyomatosis and Renal Cell CarcinomaKidney CarcinomaSkin LeiomyomaUterine Corpus Leiomyoma

NCT00050752

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • W. Marston Linehan, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Deborah A Nielsen, R.N.
[email protected]
(240) 760-6247
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Want this trial checked against your situation?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

Individuals suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as:
Cutaneous leiomyoma and kidney cancer; or
Cutaneous leiomyoma and uterine leiomyoma; or
Multiple cutaneous leiomyoma; or
Kidney cancer and uterine leiomyomata; or
Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II
All participants and parents/guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed.
Participants must be \>= 2 years of age.
A relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC.

What this trial measures

  • Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations.on-going

    Molecular genetic differences between normal and tumorigenic fumarate hydratase (fumerase) mutations.

  • Determine the clinical manifestations of HLRCCon-going

    Collection of blood, urine and/or benign and malignant tissue.

  • Determine if other genes cause HLRCC.on-going

    Molecular genetic differences between normal and tumorigenic cells.

  • Determine genotype/phenotype correlations.on-going

    Detection and expression analysis of gene(s).

  • Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC.on-going

    Detection and expression analysis of gene(s).

  • Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome.on-going

    Collection of blood, urine and/or benign and malignant tissue.