Ignite Creation Date:
2024-05-05 @ 11:29 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00050752
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2002-12-17
Brief Title:
Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Hereditary Leiomyomatosis Renal Cell Cancer HLRCC Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer
Status:
RECRUITING
Status Verified Date:
2024-10-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
Background
Hereditary Leiomyomatosis and Renal Cell Cancer HLRCC is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma
HLRCC is caused by mutations in the Krebs cycle enzyme fumarate hydratase localized on chromosome 1q423-q43
Objectives
Define the risk of developing renal cancer cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome
Define the types and characteristics including patterns of growth of renal cancer associated with HLRCC
Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations
Determine genotypephenotype correlations
Determine if other genes caused HLRCC
Eligibility
-An individual from a family in which one or more biological family members have
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 andor Papillary Type II
Design
These rare biological families will be recruited to genetically confirm diagnosis determine size and location of renal tumors size at presentation growth rate and metastatic potential of renal tumors
Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations
We will determine if there is a relationship between mutation and disease phenotype
Hereditary Leiomyomatosis and Renal Cell Cancer HLRCC is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma
HLRCC is caused by mutations in the Krebs cycle enzyme fumarate hydratase localized on chromosome 1q423-q43
Objectives
Define the risk of developing renal cancer cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome
Define the types and characteristics including patterns of growth of renal cancer associated with HLRCC
Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations
Determine genotypephenotype correlations
Determine if other genes caused HLRCC
Eligibility
-An individual from a family in which one or more biological family members have
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 andor Papillary Type II
Design
These rare biological families will be recruited to genetically confirm diagnosis determine size and location of renal tumors size at presentation growth rate and metastatic potential of renal tumors
Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations
We will determine if there is a relationship between mutation and disease phenotype
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-C-0066 | None | None | None |