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Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

NCT03589079 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2020-02-12

No results posted yet for this study

Summary

The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in families across the United Arab Emirates (UAE).

Conditions

  • Mendelian Disorders
  • Genetic Disorder
  • Novel Mutation
  • Hereditary Disorder
  • De Novo Mutation
  • Inherited Disease
  • Single-Gene Defects

Interventions

GENETIC

Sanger and/or Next Generation Sequencing (NGS)

NGS panel, whole exome / genome sequencing (WES/WGS)

Sponsors & Collaborators

  • Imperial College London Diabetes Centre

    lead OTHER

Principal Investigators

  • Maha Barakat, PhD FRCP · Imperial College London Diabetes Centre

  • Houman Ashrafian, DPhil FRCP · University of Oxford

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-01
Primary Completion
2021-01-31
Completion
2021-01-31

Countries

  • United Arab Emirates

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03589079 on ClinicalTrials.gov