Kidney Cancer Clinical Trial
Official title:
Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer
NCT number | NCT00050752 |
Other study ID # | 030066 |
Secondary ID | 03-C-0066 |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | February 24, 2003 |
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.
Status | Recruiting |
Enrollment | 950 |
Est. completion date | |
Est. primary completion date | |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 2 Years and older |
Eligibility | - INCLUSION CRITERIA: Patients 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 - Cutaneous leiomyoma and uterine leiomyoma - Multiple cutaneous leiomyoma - Kidney cancer and uterine leiomyomata - Renal tumor histology consistent with HRLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II - All patients 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. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation. - Participants must be >= 2 years of age. - A relative (related by blood) of a patient with a confirmed or suspected diagnosis of HLRCC. EXCLUSION CRITERIA: None |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Cancer Institute (NCI) |
United States,
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20. doi: 10.1126/science.8493574. — View Citation
Linehan WM, Lerman MI, Zbar B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA. 1995 Feb 15;273(7):564-70. No abstract available. — View Citation
Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M, Linehan WM. Hereditary papillary renal cell carcinoma. J Urol. 1994 Mar;151(3):561-6. doi: 10.1016/s0022-5347(17)35015-2. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations. | Molecular genetic differences between normal and tumorigenic fumarate hydratase (fumerase) mutations. | on-going | |
Primary | Determine the clinical manifestations of HLRCC | Collection of blood, urine and/or benign and malignant tissue. | on-going | |
Primary | Determine if other genes cause HLRCC. | Molecular genetic differences between normal and tumorigenic cells. | on-going | |
Primary | Determine genotype/phenotype correlations. | Detection and expression analysis of gene(s). | on-going | |
Primary | Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC. | Detection and expression analysis of gene(s). | on-going | |
Primary | Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome. | Collection of blood, urine and/or benign and malignant tissue. | on-going |
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