RECRUITINGINTERVENTIONAL

Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis

A Randomized Trial of Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis

About This Trial

This pilot study investigates integrating whole genome sequencing and digital twin technology for managing hypercholesterolemia in Abu Dhabi clinics. It aims to establish protocols for larger future studies and incorporate genomic insights into routine medical care.

Who May Be Eligible (Plain English)

Who May Qualify: - Patients with 2 or more LDL-C levels greater than 190 mg/dL or 5.0 mmol/L in the past 12 months - Undiagnosed patients meeting Possible, Probable or Definitive FH criteria according to Dutch Lipid Clinic Network (DLCN) criteria (Eur Heart J. 2011 Jul;32(14):1769-818. doi: 10.1093/eurheartj/ehr158. Epub 2011 Jun 28.) - Patients who have not been on anti-lipidemic medication in the past 3 months - Ages 18-55 - Emirati national - All patients must be fluent in English or Arabic Who Should NOT Join This Trial: - \- Patients who do not meet the above criteria - Patients with a previous diagnosis of FH - Patients with a progressive debilitating illness - Patient with untreated hypothyroidism, history of proteinuria, obstructive liver disease, chronic renal failure, human weakened immune system virus infection, or on immunosuppressant or steroid or psychiatric medications - Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score of ≥ 16 on the depression subscale) - Patients who are pregnant Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * Patients with 2 or more LDL-C levels greater than 190 mg/dL or 5.0 mmol/L in the past 12 months * Undiagnosed patients meeting Possible, Probable or Definitive FH criteria according to Dutch Lipid Clinic Network (DLCN) criteria (Eur Heart J. 2011 Jul;32(14):1769-818. doi: 10.1093/eurheartj/ehr158. Epub 2011 Jun 28.) * Patients who have not been on anti-lipidemic medication in the past 3 months * Ages 18-55 * Emirati national * All patients must be fluent in English or Arabic Exclusion Criteria: * \- Patients who do not meet the above criteria * Patients with a previous diagnosis of FH * Patients with a progressive debilitating illness * Patient with untreated hypothyroidism, history of proteinuria, obstructive liver disease, chronic renal failure, human immunodeficiency virus infection, or on immunosuppressant or steroid or psychiatric medications * Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score of ≥ 16 on the depression subscale) * Patients who are pregnant

Treatments Being Tested

GENETIC

Whole Genome Sequencing

Participants in this arm will have their blood sample analyzed by whole-genome sequencing (WGS) and will be given access to Predictiv™ Deoxyribonucleic acid (DNA)-based digital twin platform, a web-based interactive application with WGS results. The platform will include positive monogenic and polygenic Familial Hypercholesterolemia results and pharmacogenomics results on statins and clopidogrel. A report of positive monogenic variants will be included in their medical record. This may also include genes on the American College of Medical Genetics and Genomics (ACMG) secondary findings (SF) version 3.2 list if the participant consents to receive these incidental findings. The report will only include pathogenic, likely pathogenic, and variant of uncertain significance (VUS) results.

Locations (1)

Abu Dhabi Health Research Center

Abu Dhabi, Abu Dhabi Emirate, United Arab Emirates