Clinical Trial Details
— Status: Active, not recruiting
Administrative data
NCT number |
NCT02021734 |
Other study ID # |
13-00065 [JIRB] |
Secondary ID |
12217/12 |
Status |
Active, not recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
November 19, 2012 |
Est. completion date |
December 2025 |
Study information
Verified date |
December 2023 |
Source |
Weill Medical College of Cornell University |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial Summary
There are certain categories of diseases which are more prevalent in the Arab world due to
increased rates of consanguinity in relatively isolated populations. The goal is to discover
these mutations by using next-generation human genetics tools.
Description:
There are certain categories of diseases which are more prevalent in the Arab world due to
increased rates of consanguinity in relatively isolated populations. The goal is to discover
these mutations by using next-generation human genetics tools. These include high-throughput
sequencing and genotyping along with the necessary bioinformatics analyses that will lead to
the discovery of the causes of most inherited diseases in the region.The secondary objective
will be to build a comprehensive catalogue of genetic variation in the Arab world. This will
include all detected mutations, not only the subset that are causing disease (from primary
objective), but also known trait-altering mutations as well as general diversity on the DNA
level among human populations of this region. This catalogue can become a widely useful
resource for many projects down the road, as it relies on anonymizing individual samples and
instead displaying data in aggregate as the cohorts of collected samples grow over the years.
The study will include all genetic disorders from all ethnic backgrounds but Mendelian
disease for which a gene mutation has already been identified will be excluded.
Evidence of Mendelian Transmission determined by fulfilling one of the following criteria:
Multiple affected family members (at least first degree relative with disease) History of
consanguinity Severe disease in newborn in the absence of family history Sydromic disease in
single individuals Congenital abnormality affecting major organ system(s) Mendelianized
extremes of common disease (eg sever familial diabetes/ obesity/ hypertension)