NCT00050752 Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
| NCT ID | NCT00050752 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Cancer Institute (NCI) |
| Condition | Renal Tumor Histology |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,130 participants |
| Start Date | 2003-02-24 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,130 participants in total. It began in 2003-02-24.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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. ...
Eligibility Criteria
* INCLUSION CRITERIA: * 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. EXCLUSION CRITERIA: None
Contact & Investigator
W. Marston Linehan, M.D.
PRINCIPAL INVESTIGATOR
National Cancer Institute (NCI)
Frequently Asked Questions
Who can join the NCT00050752 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, studying Renal Tumor Histology. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00050752 currently recruiting?
Yes, NCT00050752 is actively recruiting participants. Contact the research team at deborah.nielsen@nih.gov for enrollment information.
Where is the NCT00050752 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00050752 clinical trial?
NCT00050752 is sponsored by National Cancer Institute (NCI). The principal investigator is W. Marston Linehan, M.D. at National Cancer Institute (NCI). The trial plans to enroll 1,130 participants.