Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT00083798 |
| Other study ID # |
1251 |
| Secondary ID |
5R01HL072067 |
| Status |
Completed |
| Phase |
N/A
|
| First received |
June 2, 2004 |
| Last updated |
August 18, 2016 |
| Start date |
September 2003 |
| Est. completion date |
July 2008 |
Study information
| Verified date |
August 2016 |
| Source |
University of Pennsylvania |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
United States: Federal Government |
| Study type |
Observational
|
Clinical Trial Summary
To study the genetic basis of obstructive sleep apnea using a genealogical approach.
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 285,000 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 1,100 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.
