Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
Recruiting
Observational Study
Renal Tumor HistologyCutaneous LeiomyomaKidney Cancer
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Age
2 and older
Sex
Any
Study type
Observational
Participants needed
1,130 (estimated)
Sponsor
National Cancer Institute (NCI) · NIH
Who this trial is looking for
This trial is looking for people with hereditary leiomyomatosis renal cell cancer or those in families affected by this condition. If you join, you may have your medical history reviewed and undergo tests to help understand the disease better.
Are You a Good Fit for This Trial?
You may be able to join if
I have skin leiomyomas and kidney cancer
I have skin leiomyomas and uterine leiomyomas
I have multiple skin leiomyomas
I have kidney cancer and uterine leiomyomas
I have a kidney tumor that may be related to HLRCC
I am at least 2 years old
I am related by blood to someone with known or suspected HLRCC
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
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 leiomy…
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.
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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 leiomy…
* 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
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