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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
Sponsor:
Collaborators:
Hamad Medical Corporation
Weill Cornell Medical College in Qatar
Information provided by (Responsible Party):
Weill Medical College of Cornell University

Study Description
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Brief 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.

Condition or disease
Mendelian Disorders

Detailed 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)

Study Design
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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
Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Next generation sequencing [ Time Frame: 1 hour ]
    Use next generation sequencing to detect novel disease causing mutations


Biospecimen Retention:   Samples With DNA
Blood

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
physicians and by thorough review of the literature to establish that the disease is indeed Mendelian and with unknown gene.
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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Qatar
Hamad Medical Corporation
Doha, Qatar
Sponsors and Collaborators
Weill Medical College of Cornell University
Hamad Medical Corporation
Weill Cornell Medical College in Qatar
Investigators
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Principal Investigator: Ronald Crystal, MD Weill Medical College of Cornell University
More Information
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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