Genetics of Mendelian Diseases in Qatar

Mendelian Disorders Clinical Trial

Official title:

Genetics of Mendelian Diseases in Qatar

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
• 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
• 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)

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 400
• Est. completion date: December 2025
• Est. primary completion date: December 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Mendelian Disorders

Locations

Country	Name	City	State
Qatar	Hamad Medical Corporation	Doha

Sponsors (3)

Lead Sponsor	Collaborator
Weill Medical College of Cornell University	Hamad Medical Corporation, Weill Cornell Medical College in Qatar

Country where clinical trial is conducted

Qatar, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Next generation sequencing	Use next generation sequencing to detect novel disease causing mutations	1 hour