Genetics of Mendelian Diseases in Qatar
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
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
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Mendelian Disorders |
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 |
Observational Model: | Family-Based |
Time Perspective: | Prospective |
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- All included individuals must provide informed consent
- All genetic disorders are included
- All ethnic backgrounds are accepted
- Disease must be genetic with no evident environmental cause
- 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)
Exclusion Criteria:
- Individuals who do no consent to be included
- Mendelian disease for which a gene mutation has already been identified
- Individuals for which a molecular diagnosis has already been established by alternative method
- Disease for which an environmental factor is most likely the cause
- Disease for which late age of onset rule out Mendelian transmission
- Common diseases for which late age of onset rule out Mendelian transmission

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
Qatar | |
Hamad Medical Corporation | |
Doha, Qatar |
Principal Investigator: | Ronald Crystal, MD | Weill Medical College of Cornell University |
Responsible Party: | Weill Medical College of Cornell University |
ClinicalTrials.gov Identifier: | NCT02021734 |
Other Study ID Numbers: |
13-00065 [JIRB] 12217/12 ( Other Identifier: HMC IRB ) |
First Posted: | December 27, 2013 Key Record Dates |
Last Update Posted: | January 27, 2021 |
Last Verified: | January 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |