Investigating the genetic causes of hereditary kidney cancer
Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer
National Institutes of Health Clinical Center (CC) · NCT00050752
This study is trying to find out the genetic causes of hereditary kidney cancer to help people with this condition and their families understand their risks and health better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1130 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00050752 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on hereditary leiomyomatosis renal cell cancer (HLRCC), a genetic condition that increases the risk of developing kidney tumors and other related health issues. It aims to identify the genetic mutations responsible for HLRCC, characterize the types of kidney tumors associated with the condition, and assess the likelihood of tumor development in affected individuals. Participants will include those with known or suspected HLRCC and their family members, allowing for a comprehensive understanding of the disease's genetic underpinnings and its clinical implications.
Who should consider this trial
Good fit: Ideal candidates include individuals with known or suspected HLRCC, particularly those with family histories of cutaneous leiomyoma and kidney or uterine tumors.
Not a fit: Patients without a family history of HLRCC or those not exhibiting symptoms related to the condition may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic counseling and management strategies for patients at risk of hereditary kidney cancer.
How similar studies have performed: While studies on hereditary cancer syndromes exist, this specific investigation into HLRCC and its genetic causes is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: W. Marston Linehan, M.D. — National Cancer Institute (NCI)
- Study coordinator: Deborah A Nielsen, R.N.
- Email: deborah.nielsen@nih.gov
- Phone: (240) 760-6247
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Renal Tumor Histology, Cutaneous Leiomyoma, Kidney Cancer, Renal Cancer, Hereditary Leiomyomatosis, Uterine Fibroid, Natural History