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

StatusRecruiting
PhaseNot specified
Started

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Record History

The 50 most recent of 370 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. Minor Enrollment increased: 1130 → 1350 participants
  2. Minor Eligibility criteria expanded, about 10 words
    • Study description expanded, about 8 words
  3. Re-verified, no change to tracked fields
  4. Re-verified, no change to tracked fields
  5. Re-verified, no change to tracked fields
Show 45 earlier versionsHide 45 earlier versions
  1. Minor Eligibility criteria expanded, about 10 words
    • Study description expanded, about 17 words
  2. 26 versions Re-verified since Sep 12, 2025, no change to tracked fieldsv339-v364
  3. Minor Eligibility criteria shortened, about 24 wordsv338
  4. Study Status, Study Description, Arms and Interventions, Eligibilityv337
  5. 12 versions Re-verified since Apr 22, 2025, no change to tracked fieldsv325-v336
  6. Minor Enrollment target: 950 to 1130v324
  7. 3 versions Re-verified since Feb 8, 2025, no change to tracked fieldsv321-v323
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors. Leiomyomas are benign (non-cancerous) tumors arising from smooth muscle. HLRCC can cause various health problems. Some people develop red bumps on their skin that can be painful at times. Some women with HLRCC can develop leiomyomas of the uterus. In some families, people with HLRCC develop kidney tumors. This study will try to determine: * What gene changes (mutations) cause HLRCC * What kind of kidney tumors develop in HLRCC and how they grow * What the chance is that a person with HLRCC will develop a kidney tumor People with known or suspected HLRCC (and their family members of any age) may be eligible for this study. This includes people in families in which one or more members has skin leiomyoma and kidney cancer; skin leiomyoma and uterine leiomyoma; multiple skin leiomyomas; kidney cancer and uterine leiomyomas, or kidney cancer consistent with HLRCC, including, but not limited to, collecting duct or papillary, type II. Candidates will be screened with a physical examination, family history, and, for affected family members, a review of medical records, including pathology slides and computed tomography (CT) or magnetic resonance imaging (MRI) scans. Participants will undergo tests and procedures that may include the following: * Review of medical records, x-rays, and tissue slides * Physical examination and family history * Skin examination * Gynecological examination for women * Interviews with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor * Blood tests for: 1. Genetic research to identify the gene responsible for HLRCC 2. Evaluation of liver, kidney, heart, pancreas, and thyroid function 3. Complete blood count and clotting profile 4. Pregnancy test for pre-menopausal women 5. PSA test for prostate cancer in men over age 40 * CT or MRI scans (for participants 15 years of age and older only) * Skin biopsy (surgical removal of a small sample of skin tissue) * Cheek swab or mouth rinse to collect cells for genetic analysis * Medical photographs of lesions * Questionnaire When the tests are completed, participants will discuss the results with a doctor and possibly a genetic nurse or genetic counselor. The genetic findings will not be revealed to participants because their meaning and implications may not yet be understood. Participants may be asked to return to NIH from every 3 months to every 3 years, depending on their condition, for follow-up examinations and tests.
Trial Details
NCT Number NCT00050752
Lead Sponsor National Cancer Institute (NCI)
Conditions
(from sponsor)
Renal Tumor Histology, Cutaneous Leiomyoma, Kidney Cancer
Related terms Kidney Neoplasms, Leiomyoma
Enrollment 1,350 participants
Start Date
Updated on ClinicalTrials.gov