Ignite Creation Date:
2024-05-05 @ 4:54 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341627
Status:
COMPLETED
Last Update Posted:
2020-07-10
First Post:
2006-06-19
Brief Title:
Genetic Aspects of Chordoma A Collaboration With SEER Registries to Identify Chordoma Families
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Aspects of Chordoma A Collaboration With SEER Registries to Identify Chordoma Families
Status:
COMPLETED
Status Verified Date:
2020-07
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:
Chordoma is an uncommon 400 caseyear in the US and potentially fatal bone tumor derived from remnants of embryonic notochord It occurs primarily in the axial skeleton and has a mean age at diagnosis of 55 years with a range from early childhood to over 70 years This tumor usually presents at an advanced stage and the associated mortality is high due to local destruction and distant metastases Chordoma is rare in African-Americans and is typically sporadic there are few reports of these tumors arising congenitally or within members of the same family
Recently we have identified and studied one large family in which 10 relatives in three generations have chordoma the inheritance pattern suggests transmission of a mutation in an autosomal dominant gene Using information from this family we have tentatively napped this gene to the long arm of chromosome 7 To confirm this finding and to fine map and clone the gene we need to study additional chordoma families In an effort to identify such families we have developed collaborations with four SEER registries covering the populations of Detroit Los Angeles Iowa and New Mexico Each registry will identify all chordoma cases diagnosed since 1988 and invite them or the next of kin of deceased cases to participate in our study Through 1997 the registries have identified a total of 140 chordoma cases 96 of whom are living The registries will invite these patients or their next of kin to participate in the study The study components include completion of a self-administered personal and family medical history questionnaire retrieval of medical records and pathology reports pertaining to chordoma and collection of paraffin-embedded chordoma tissue and buccal mucosal cells for genetic studies NCI will carry out all the data collection activities for the study subjects identified through the Detroit registry NCI will also conduct the buccal cell collection component of the study for all patients identified by the other three registries These three registries will carry out all other study activities on these patientsnext of kin and will send the data and slides prepared from the paraffin blocks to NCI NCI will analyze the questionnaire data to determine if any unusual patterns of cancers other than chordoma or other medical conditions appear to cluster in families of the chordoma patients Selected members of any families with two or more relatives with chordoma will be invited to participate in a separate clinical and molecular study conducted at NIH to try to identify the chordoma gene DNA from the buccal cells and tumor blocks from all other patients with sporadic chordoma identified through the registries likely to comprise most patients will not be studied until we or others have identified such a gene
Recently we have identified and studied one large family in which 10 relatives in three generations have chordoma the inheritance pattern suggests transmission of a mutation in an autosomal dominant gene Using information from this family we have tentatively napped this gene to the long arm of chromosome 7 To confirm this finding and to fine map and clone the gene we need to study additional chordoma families In an effort to identify such families we have developed collaborations with four SEER registries covering the populations of Detroit Los Angeles Iowa and New Mexico Each registry will identify all chordoma cases diagnosed since 1988 and invite them or the next of kin of deceased cases to participate in our study Through 1997 the registries have identified a total of 140 chordoma cases 96 of whom are living The registries will invite these patients or their next of kin to participate in the study The study components include completion of a self-administered personal and family medical history questionnaire retrieval of medical records and pathology reports pertaining to chordoma and collection of paraffin-embedded chordoma tissue and buccal mucosal cells for genetic studies NCI will carry out all the data collection activities for the study subjects identified through the Detroit registry NCI will also conduct the buccal cell collection component of the study for all patients identified by the other three registries These three registries will carry out all other study activities on these patientsnext of kin and will send the data and slides prepared from the paraffin blocks to NCI NCI will analyze the questionnaire data to determine if any unusual patterns of cancers other than chordoma or other medical conditions appear to cluster in families of the chordoma patients Selected members of any families with two or more relatives with chordoma will be invited to participate in a separate clinical and molecular study conducted at NIH to try to identify the chordoma gene DNA from the buccal cells and tumor blocks from all other patients with sporadic chordoma identified through the registries likely to comprise most patients will not be studied until we or others have identified such a gene
Detailed Description:
Chordoma is an uncommon 400 caseyear in the US and potentially fatal bone tumor derived from remnants of embryonic notochord It occurs primarily in the axial skeleton and has a mean age at diagnosis of 55 years with a range from early childhood to over 70 years This tumor usually presents at an advanced stage and the associated mortality is high due to local destruction and distant metastases Chordoma is rare in African-Americans and is typically sporadic there are few reports of these tumors arising congenitally or within members of the same family
In 1996 we have identified and studied one large family in which 8 relatives in three generations have chordoma the inheritance pattern suggests transmission of a mutation in an autosomal dominant gene Using information from this family we tentatively mapped this gene to the long arm of chromosome 7 To confirm this finding and to fine map and clone the gene we needed to study additional chordoma families
In an effort to identify such families we have developed collaborations with four SEER registries covering the populations of Detroit Los Angeles Iowa and New Mexico Each registry will identify all chordoma cases diagnosed since 1988 and invite them or the next of kin of deceased cases to participate in our study Through 1997 the registries have identified a total of 140 chordoma cases 96 of whom are living The registries will invite these patients or their next of kin to participate in the study The study components included completion of a self-administered personal and family medical history questionnaire retrieval of medical records and pathology reports pertaining to chordoma and collection of paraffin-embedded chordoma tissue and buccal mucosal cells for genetic studies NCI carried out all the data collection activities for the study subjects identified through the Detroit registry NCI also conducted the buccal cell collection component of the study for all patients identified by the other three registries These three registries will carry out all other study activities on these patientsnext of kin and sent the data and slides prepared from the paraffin blocks to NCI NCI will analyze the questionnaire data to determine if any unusual patterns of cancers other than chordoma or other medical conditions appear to cluster in families of the chordoma patients Selected members of any families with two or more relatives with chordoma will be invited to participate in a separate clinical and molecular study conducted at NIH to try to identify the chordoma gene DNA from the buccal cells and tumor blocks from all other patients with sporadic chordoma identified through the registries likely to comprise most patients will not be studied until we or others have identified such a gene
In 1996 we have identified and studied one large family in which 8 relatives in three generations have chordoma the inheritance pattern suggests transmission of a mutation in an autosomal dominant gene Using information from this family we tentatively mapped this gene to the long arm of chromosome 7 To confirm this finding and to fine map and clone the gene we needed to study additional chordoma families
In an effort to identify such families we have developed collaborations with four SEER registries covering the populations of Detroit Los Angeles Iowa and New Mexico Each registry will identify all chordoma cases diagnosed since 1988 and invite them or the next of kin of deceased cases to participate in our study Through 1997 the registries have identified a total of 140 chordoma cases 96 of whom are living The registries will invite these patients or their next of kin to participate in the study The study components included completion of a self-administered personal and family medical history questionnaire retrieval of medical records and pathology reports pertaining to chordoma and collection of paraffin-embedded chordoma tissue and buccal mucosal cells for genetic studies NCI carried out all the data collection activities for the study subjects identified through the Detroit registry NCI also conducted the buccal cell collection component of the study for all patients identified by the other three registries These three registries will carry out all other study activities on these patientsnext of kin and sent the data and slides prepared from the paraffin blocks to NCI NCI will analyze the questionnaire data to determine if any unusual patterns of cancers other than chordoma or other medical conditions appear to cluster in families of the chordoma patients Selected members of any families with two or more relatives with chordoma will be invited to participate in a separate clinical and molecular study conducted at NIH to try to identify the chordoma gene DNA from the buccal cells and tumor blocks from all other patients with sporadic chordoma identified through the registries likely to comprise most patients will not be studied until we or others have identified such a gene
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 |
|---|---|---|---|
| OH99-C-N005 | None | None | None |