Genetics of Mendelian Diseases in Qatar
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|ClinicalTrials.gov Identifier: NCT02021734|
Recruitment Status : Suspended (Temporarily paused due to COVID-19 and will resume based on guidance of public health authorities. This is not a suspension of IRB approval.)
First Posted : December 27, 2013
Last Update Posted : January 27, 2021
|Condition or disease|
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)
|Study Type :||Observational|
|Estimated Enrollment :||400 participants|
|Official Title:||Genetics of Mendelian Diseases in Qatar|
|Actual Study Start Date :||November 19, 2012|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||December 2023|
- Next generation sequencing [ Time Frame: 1 hour ]Use next generation sequencing to detect novel disease causing mutations
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02021734
|Hamad Medical Corporation|
|Principal Investigator:||Ronald Crystal, MD||Weill Medical College of Cornell University|