Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001814
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Genetic Analysis of Inherited Urologic Malignant Disorders Collection of Samples
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Inherited Urologic Malignant Disorders Collection of Samples
Status:
COMPLETED
Status Verified Date:
2000-02
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:
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems As specific disease syndromes are recognized and the responsible genes identified mutations in individual families can be identified Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled Genetic linkage studies will include all available family members while gene sequence analysis will be performed on affected individuals Unaffected family members or unrelated normal individuals will serve as controls The family members will be identified by the proband or probands parent when the initial pedigree is taken Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators who will then connect these members to their own local providers for enrollment
In our studies of inherited urologic malignant disorders there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems geographical location or personal preference Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health they may have rare diseases that are extremely important to study Therefore we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification Samples will be collected either by the individuals physician and sent to NIH or will be collected by NIH physicians at either the individuals off-site location or at the NIH
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled Genetic linkage studies will include all available family members while gene sequence analysis will be performed on affected individuals Unaffected family members or unrelated normal individuals will serve as controls The family members will be identified by the proband or probands parent when the initial pedigree is taken Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators who will then connect these members to their own local providers for enrollment
In our studies of inherited urologic malignant disorders there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems geographical location or personal preference Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health they may have rare diseases that are extremely important to study Therefore we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification Samples will be collected either by the individuals physician and sent to NIH or will be collected by NIH physicians at either the individuals off-site location or at the NIH
Detailed Description:
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems As specific disease syndromes are recognized and the responsible genes identified mutations in individual families can be identified Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled Genetic linkage studies will include all available family members while gene sequence analysis will be performed on affected individuals Unaffected family members or unrelated normal individuals will serve as controls The family members will be identified by the proband or probands parent when the initial pedigree is taken Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators who will then connect these members to their own local providers for enrollment
In our studies of inherited urologic malignant disorders there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems geographical location or personal preference Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health they may have rare diseases that are extremely important to study Therefore we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification Samples will be collected either by the individuals physician and sent to NIH or will be collected by NIH physicians at either the individuals off-site location or at the NIH
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled Genetic linkage studies will include all available family members while gene sequence analysis will be performed on affected individuals Unaffected family members or unrelated normal individuals will serve as controls The family members will be identified by the proband or probands parent when the initial pedigree is taken Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators who will then connect these members to their own local providers for enrollment
In our studies of inherited urologic malignant disorders there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems geographical location or personal preference Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health they may have rare diseases that are extremely important to study Therefore we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification Samples will be collected either by the individuals physician and sent to NIH or will be collected by NIH physicians at either the individuals off-site location or at the NIH
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| 99-C-0101 | None | None | None |