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Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

United Arab Emirates150 participantsStarted 2018-01-01

Plain-language 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).

Who can participate

SexALL

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Inclusion criteria

✓. Unusual presentations of common disorders, e.g. with clearly defined syndromic/dysmorphic features\*.
✓. Extreme phenotypic presentations.
✓. Entirely novel, previously undefined phenotypes.
✓. Presence of syndromic/dysmorphic features.
✓. Family history of similar presentations in other relative(s).
✓. Pattern of inheritance.
✓. Parental consanguinity.

Exclusion criteria

✕. Genotype negative for known genes underlying the disorder/phenotype.

What they're measuring

Novel phenotype and gene discovery

Timeframe: through study completion, an average of 2 year

Trial details

NCT IDNCT03589079

SponsorImperial College London Diabetes Centre

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-01

Contact for this trial

Hinda Daggag, PhD

+971 2 404 0800 hdaggag@icldc.ae

View on ClinicalTrials.gov More Mendelian Disorders trials