Genetics of Mendelian Diseases in Qatar

NCT02021734 | Completed

• 2 other identifiers: 13-00065 [JIRB]12217/12
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

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.

Conditions

Mendelian Disorders

Outcome Measures

Primary Outcomes (1)

• Next generation sequencing

  Use next generation sequencing to detect novel disease causing mutations

  1 hour

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead
• Hamad Medical Corporation: collaborator
• Weill Cornell Medical College in Qatar: collaborator

Study Sites (1)

Hamad Medical Corporation

Doha, Qatar

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

Study Officials

• Ronald Crystal, MD

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 22, 2013
• First Posted: December 27, 2013
• Study Start: November 19, 2012
• Primary Completion: June 1, 2022
• Study Completion: February 1, 2025
• Last Updated: November 17, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

QA (1)