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Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

This study is currently recruiting participants.
Study NCT00055627.   Last updated on October 18, 2008.   Information provided by National Cancer Institute (NCI)

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Descriptive Information Fields
Brief Title  Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
Official Title  Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification Of The Disease Gene And Characterization of The Predisposition To Renal Cancer
Brief Summary

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may help doctors identify patients who are at risk for cancer.

PURPOSE: This clinical trial is studying cancer risk and gene identification in patients and families with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).

Detailed Description

OBJECTIVES:

  • Determine the types and characteristics (e.g., patterns of growth) of renal cancer in patients and families with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
  • Determine the risk of renal cancer in patients and their families with HLRCC.
  • Determine the incidence of germline fumarate hydratase (fumerase) mutations in this population.
  • Determine whether other genes are responsible for HLRCC.
  • Correlate genotype and phenotype in this population.
  • Determine the clinical manifestations of HLRCC.

OUTLINE: Detailed family and medical histories are obtained from participants. Participants then undergo one or more of the following: physical examination, blood draw, imaging studies, and karyotypic analysis.

Blood or buccal smears are examined by linkage or DNA analysis and other genetic studies.

Participants may receive an explanation of study findings, appropriate counseling about their own status, and recommendations for follow-up/treatment. Participants may receive DNA results from analysis of their fumarate hydratase gene.

Some participants with indeterminate renal lesions are followed every 3-36 months, depending on the characteristics (e.g., size and/or growth) of the lesion.

PROJECTED ACCRUAL: A total of 450 participants will be accrued for this study within 3 years.

Study Phase
Study Type  Observational
Study Design 
Primary Outcome Measure 
Secondary Outcome Measure 
Condition  Precancerous/Nonmalignant Condition
Intervention  Procedure: DNA ploidy analysis
Procedure: cytogenetic analysis
Procedure: gene expression profiling
Procedure: genetic linkage analysis
Procedure: medical chart review
Procedure: mutation analysis
MEDLINE PMIDs 15937070,   16098467,   15741255,   15380513,   12511666,   14680318,   14634372,   12772087,   12525673
Links Clinical trial summary from the National Cancer Institute's PDQ® database This link exits the ClinicalTrials.gov site
Recruitment Information Fields
Recruitment Status  Recruiting
Enrollment  450
Start Date  December 2002
Completion Date
Eligibility Criteria 

DISEASE CHARACTERISTICS:

  • Patients with known or suspected hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and their family members

    • Spouses also eligible
  • One or more family members must have 1 of the following:

    • Cutaneous leiomyoma and kidney cancer
    • Cutaneous leiomyoma and uterine leiomyoma
    • Multiple cutaneous leiomyoma
    • Kidney cancer and uterine leiomyomata
    • Renal tumor histology consistent with HLRCC, including but not limited to collecting duct and/or type II papillary carcinoma

PATIENT CHARACTERISTICS:

Age

  • Any age

Performance status

  • Not specified

Life expectancy

  • Not specified

Hematopoietic

  • Not specified

Hepatic

  • Not specified

Renal

  • Not specified

Other

  • Negative pregnancy test (if undergoing imaging tests)

PRIOR CONCURRENT THERAPY:

Biologic therapy

  • Not specified

Chemotherapy

  • Not specified

Endocrine therapy

  • Not specified

Radiotherapy

  • Concurrent standard-care radiotherapy allowed

Surgery

  • Concurrent standard-care surgery allowed
Gender Both
Ages
Accepts Healthy Volunteers No
Contacts ††
Location Countries  United States
Administrative Information Fields
NCT ID  NCT00055627
Organization ID CDR0000269913
Secondary IDs †† NCI-03-C-0066
Study Sponsor  NCI - Center for Cancer Research-Medical Oncology
Collaborators †† National Cancer Institute (NCI)
Investigators 
Study Chair:     William M. Linehan, MD     NCI - Urologic Oncology Branch    
Information Provided By National Cancer Institute (NCI)
Verification Date March 2008
First Received Date  March 6, 2003
Last Updated Date October 18, 2008

 †    Required WHO trial registration data element.
††   WHO trial registration data element that is required only if it exists.




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