Ignite Creation Date:
2024-05-05 @ 11:34 AM
Last Modification Date:
2024-10-26 @ 9:10 AM
Study NCT ID:
NCT00083798
Status:
COMPLETED
Last Update Posted:
2016-08-22
First Post:
2004-06-02
Brief Title:
Family Linkage Study of Obstructive Sleep Apnea OSA in Iceland
Sponsor:
University of Pennsylvania
Organization:
University of Pennsylvania
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2016-08
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 study the genetic basis of obstructive sleep apnea using a genealogical approach
Detailed Description:
BACKGROUND
There is family aggregation of obstructive sleep apnea OSA as has been shown in the United States Europe and recently in Iceland Iceland represents a unique opportunity for genetic research It is a community that was settled by founders in the 9 th Century and has developed in relative isolation since that time to its present size of 285000 persons Moreover there is a commitment to record keeping that has allowed deCODE Genetics who are collaborators on this grant to develop a computerized genealogy data base that permits the ancestry of individuals to be traced over centuries This tool together with the founder nature of the population makes possible a unique genealogy-driven approach to study the genetics of complex disorders an approach that has already been successful
DESIGN NARRATIVE
The study uses patients with obstructive sleep apnea who have already been diagnosed in Iceland where large family pedigrees have been identified The study involves a genome-wide family linkage investigation This will be conducted with an affected only approach examining allele sharing between affected individuals using 1100 markers spaced across the genome The investigators plan to oversample the relatively non-obese subjects providing them the opportunity to evaluate linkage in both relatively non-obese and obese subjects The linkage study will be complemented with an association study with unrelated cases and controls matched for age gender and menopausal status In the association study they will as a primary aim test candidate genes arising from the linkage study and as a secondary aim evaluate candidate genes that they believe will be identified in the ongoing Cleveland Family Study A subset of subjects in both the family linkage and association study will have in-depth phenotyping to determine whether there are sub-phenotypes for this complex disorder and if so whether they aggregate in families This in depth phenotyping will involve upper airway magnetic resonance imaging to evaluate upper airway soft tissue and craniofacial structures acoustic rhinometry to quantify nasal resistance a known risk factor for the disorder and insulin resistance They will explore whether there are distinct patterns of linkage for the different sub-phenotypes To accomplish this large genetic study they have put together the resources of three major organizations--the University of Pennsylvania the University of Iceland Hospitals and deCODE Genetics They propose to leverage the truly unique infrastructure developed by deCODE Genetics the clinical research programs in sleep apnea at the University of Iceland Hospitals and the in-depth phenotyping expertise at the University of Pennsylvania to accomplish their goals
There is family aggregation of obstructive sleep apnea OSA as has been shown in the United States Europe and recently in Iceland Iceland represents a unique opportunity for genetic research It is a community that was settled by founders in the 9 th Century and has developed in relative isolation since that time to its present size of 285000 persons Moreover there is a commitment to record keeping that has allowed deCODE Genetics who are collaborators on this grant to develop a computerized genealogy data base that permits the ancestry of individuals to be traced over centuries This tool together with the founder nature of the population makes possible a unique genealogy-driven approach to study the genetics of complex disorders an approach that has already been successful
DESIGN NARRATIVE
The study uses patients with obstructive sleep apnea who have already been diagnosed in Iceland where large family pedigrees have been identified The study involves a genome-wide family linkage investigation This will be conducted with an affected only approach examining allele sharing between affected individuals using 1100 markers spaced across the genome The investigators plan to oversample the relatively non-obese subjects providing them the opportunity to evaluate linkage in both relatively non-obese and obese subjects The linkage study will be complemented with an association study with unrelated cases and controls matched for age gender and menopausal status In the association study they will as a primary aim test candidate genes arising from the linkage study and as a secondary aim evaluate candidate genes that they believe will be identified in the ongoing Cleveland Family Study A subset of subjects in both the family linkage and association study will have in-depth phenotyping to determine whether there are sub-phenotypes for this complex disorder and if so whether they aggregate in families This in depth phenotyping will involve upper airway magnetic resonance imaging to evaluate upper airway soft tissue and craniofacial structures acoustic rhinometry to quantify nasal resistance a known risk factor for the disorder and insulin resistance They will explore whether there are distinct patterns of linkage for the different sub-phenotypes To accomplish this large genetic study they have put together the resources of three major organizations--the University of Pennsylvania the University of Iceland Hospitals and deCODE Genetics They propose to leverage the truly unique infrastructure developed by deCODE Genetics the clinical research programs in sleep apnea at the University of Iceland Hospitals and the in-depth phenotyping expertise at the University of Pennsylvania to accomplish their goals
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 |
|---|---|---|---|
| 5R01HL072067 | NIH | None | httpsreporternihgovquickSearch5R01HL072067 |