Ignite Creation Date:
2024-05-05 @ 11:27 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00046618
Status:
COMPLETED
Last Update Posted:
2014-02-20
First Post:
2002-09-30
Brief Title:
Mapping Novel Disease Genes for Dilated Cardiomyopathy
Sponsor:
Mayo Clinic
Organization:
Mayo Clinic
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2014-02
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:
To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses
Detailed Description:
BACKGROUND
Dilated cardiomyopathy DCM is a heritable genetically heterogeneous disorder causing congestive heart failure Current medical therapy has minimal impact on prognosis and cardiac transplantation is the only definitive treatment for end-stage disease The molecular and cellular mechanisms underlying DCM are poorly defined but the importance of single gene defects in disease pathogenesis is becoming increasingly apparent
DESIGN NARRATIVE
The genetic epidemiology study will identify novel dilated cardiomyopathy genes using genetic linkage and mutational analyses The first aim is to determine the chromosomal location of novel familial dilated cardiomyopathy genes This will be accomplished by genome-wide genotyping and genetic linkage analyses in three large families with autosomal dominant dilated cardiomyopathy Previously identified dilated cardiomyopathy genes have been excluded in these families The second aim is to identify mutations in novel genes that cause familial dilated cardiomyopathy by linkage and sequence analyses of candidate genes mapping to dilated cardiomyopathy loci Once novel genes for familial dilated cardiomyopathy are identified the third aim will be to determine the role of these genes in a large cohort of unrelated patients with familial and sporadic dilated cardiomyopathy High throughput DNA sequence analyses will be performed to identify additional inherited and de novo mutations
Dilated cardiomyopathy DCM is a heritable genetically heterogeneous disorder causing congestive heart failure Current medical therapy has minimal impact on prognosis and cardiac transplantation is the only definitive treatment for end-stage disease The molecular and cellular mechanisms underlying DCM are poorly defined but the importance of single gene defects in disease pathogenesis is becoming increasingly apparent
DESIGN NARRATIVE
The genetic epidemiology study will identify novel dilated cardiomyopathy genes using genetic linkage and mutational analyses The first aim is to determine the chromosomal location of novel familial dilated cardiomyopathy genes This will be accomplished by genome-wide genotyping and genetic linkage analyses in three large families with autosomal dominant dilated cardiomyopathy Previously identified dilated cardiomyopathy genes have been excluded in these families The second aim is to identify mutations in novel genes that cause familial dilated cardiomyopathy by linkage and sequence analyses of candidate genes mapping to dilated cardiomyopathy loci Once novel genes for familial dilated cardiomyopathy are identified the third aim will be to determine the role of these genes in a large cohort of unrelated patients with familial and sporadic dilated cardiomyopathy High throughput DNA sequence analyses will be performed to identify additional inherited and de novo mutations
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL071225 | NIH | None | httpsreporternihgovquickSearchR01HL071225 |