Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001238
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
1999-11-03
Brief Title:
Von Hippel-Lindau VHL Clinical Manifestations Diagnosis Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Von Hippel-Lindau VHL Clinical Manifestations Diagnosis Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
Status:
RECRUITING
Status Verified Date:
2024-09-26
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:
We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders Families with urologic malignancy with known or suspected genetic basis will be enrolled Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of 1 definition and characterization of phenotype 2 determination of the natural history of the disorder and 3 genotypephenotype correlation Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated
Detailed Description:
Background
Disorders under investigation are Autosomal dominant inherited urologic malignant disorders including von Hippel-Lindau VHL hereditary papillary renal cancer HPRC Birt Hogg Dube BHD and hereditary leiomyomatosis and renal cell acarcinoma HLRCC as well as familial renal cancer
Studies have led to the identification and characterization of the VHL HPRC FLCN and HLRCC genes
The genetic etiology of the most common type of inherited kidney cancer familial renal cancer FRC remains to be determined
Objectives
To characterize the natural and clinical histories of inherited urologic malignant disorders
To determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown by linkage analysis positional cloning and evaluation of candidate genes
To correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age clinical manifestations histopathology and rate of recurrence
To identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders
Eligibility
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known including von Hippel-Lindau VHL and hereditary papillary renal carcinoma HPRC
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known specifically hereditary forms of Type II papillary renal cancer clear cell renal carcinoma renal oncocytoma chromophobe renal carcinoma or Birt Hogg Dube
Individuals and biologic family members who have urologic malignant diseases of suspected but not proven genetic etiology including families with more than one individual affected by the same or related cancers
Design
These rare 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 manifestations and phenotype
Disorders under investigation are Autosomal dominant inherited urologic malignant disorders including von Hippel-Lindau VHL hereditary papillary renal cancer HPRC Birt Hogg Dube BHD and hereditary leiomyomatosis and renal cell acarcinoma HLRCC as well as familial renal cancer
Studies have led to the identification and characterization of the VHL HPRC FLCN and HLRCC genes
The genetic etiology of the most common type of inherited kidney cancer familial renal cancer FRC remains to be determined
Objectives
To characterize the natural and clinical histories of inherited urologic malignant disorders
To determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown by linkage analysis positional cloning and evaluation of candidate genes
To correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age clinical manifestations histopathology and rate of recurrence
To identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders
Eligibility
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known including von Hippel-Lindau VHL and hereditary papillary renal carcinoma HPRC
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known specifically hereditary forms of Type II papillary renal cancer clear cell renal carcinoma renal oncocytoma chromophobe renal carcinoma or Birt Hogg Dube
Individuals and biologic family members who have urologic malignant diseases of suspected but not proven genetic etiology including families with more than one individual affected by the same or related cancers
Design
These rare 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 manifestations and 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 |
|---|---|---|---|
| 89-C-0086 | None | None | None |