An interventional study of Whole Genome Sequencing in Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive and Familial Combined Hypercholesterolemia, sponsored by Abu Dhabi Health Services Company. Recruiting at 1 site in United Arab Emirates. Open to participants aged 18 Years to 55 Years. Per ClinicalTrials.gov, last updated 2025-03-25.
Sponsored by Abu Dhabi Health Services Company · Not applicable, Interventional, and Diagnostic
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.
Atherosclerotic cardiovascular disease (ASCVD) is the leading cause of death in the Middle East, with hypercholesterolemia being a significant contributor. Genetic mechanisms of hypercholesterolemia in this region are not well understood. Autosomal dominant hypercholesterolemia is a major factor, yet only \~7% of Emiratis with familial hypercholesterolemia (FH) have these mutations. In 2013, Talmud et al. identified common variants through genome-wide association studies (GWAS) that suggest a polygenic cause for hypercholesterolemia in mutation-negative FH patients. A polygenic risk score based on 12 SNPs was validated in White European populations and is used in the UK's NHS diagnostic pipeline. Distinguishing polygenic hypercholesterolemia from FH without genetic testing is challenging. These patients exhibit familial moderate hypercholesterolemia and early coronary heart disease, with elevated LDL-C, normal triglycerides, and no tendon xanthoma. Their cardiovascular risk is similar to monogenic FH with age.
Statins, though commonly prescribed for ASCVD prevention, can cause musculoskeletal symptoms leading to poor adherence, discontinuation, elevated cholesterol, and increased cardiovascular risk. Many patients fail to achieve target LDL-C levels due to suboptimal dosing. Certain gene variants increase the risk of statin side effects.
This study seeks to integrate whole genome sequencing (WGS) technology in a clinical setting through an innovative digital twin platform. This platform allows clinicians to assess monogenic and polygenic risks in real-time and make informed statin prescribing and management decisions.
249 studies on the registry are indexed under Hyperlipoproteinemia Type II; 56 are open to participants now.
This study's planned enrollment of 40 is below the median of 134 across 178 interventional studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →Abu Dhabi Health Services Company is the lead sponsor of 9 studies on the registry; 6 are open to participants now.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
20 participants who are randomized to have whole-genome sequencing performed on their sample and given access to Predictiv™ Digital Twin. These participants will meet with a genetic counselor for results disclosure and training to access the Predictiv™ Digital Twin platform.
Genetic: Whole Genome Sequencing
20 participants who are randomized to not have whole-genome sequencing performed on their sample. These participants will have standard-of-care familial hypercholesterolemia (FH) evaluation using medical history and family history only. They will not receive genetic results or Predictiv™ Digital Twin results as part of this study.
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.
Diagnostic capabilities
Diagnostic yield of standard-of-care (based on medical and family history) versus whole genome sequencing (WGS) for identifying monogenic and polygenic familial hypercholesterolemia.
Time frame: From consent date until first documented report, up to 6 months
Prognostic capabilities of standard-of-care
Prognostic capabilities of standard-of-care (based on medical and family history) versus whole genome sequencing for predicting outcomes and management in monogenic and polygenic familial hypercholesterolemia.
Time frame: Baseline to End of Study, up to 12 months
Resources Implementation for WGS in a clinical setting
Assessed by documenting resources necessary for each phase, including execution of WGS, reporting of results, and overall evaluation,
Time frame: Baseline to End of Study, up to 12 months
Participant characteristics
Age, sociodemographic, personal and family history
Time frame: Baseline
Change in Perceived Utility
Assessed using novel participant surveys via questions including: attitudes towards DNA testing and results, understanding of results, change in expectations, confidence, concerns.
Time frame: Baseline, post-disclosure of results (approximately 2-3 months after enrollment), 6 months post-enrollment
Changes in Health Care Utilization
Assessed by reviewing medical records comparing number of services and procedures received related to the diagnosis.
Time frame: Baseline to End of Study, up to 12 months
Clinician Attitudes About WGS
A self-built survey was created to assess physicians' perspective and attitude toward WGS
Time frame: Baseline
Plan to share: Yes — Data requests can be submitted 9 months after article publication, and the data will be made accessible for up to 12 months. Extensions will be considered on a case-by-case basis.
Supporting information: Statistical analysis plan, Clinical study report
Time frame: 9-12 months
Access criteria: Qualified researchers engaged in independent scientific research can request access to trial IPD, which will be provided following the review and approval of a research proposal and Statistical Analysis Plan (SAP) and execution of a Data Sharing Agreement (DSA). For more information or to submit a request, please contact mhy-lanie@predictivcare.com.
Started Jul 2024 (actual). Primary completion is estimated for Dec 2025, 16 months after the start.
Of 35 non-industry interventional studies with no phase under Hyperlipoproteinemia Type II, half reached primary completion within 37 months of starting (the median), counting those still running; a quarter within 12 and three quarters within 51. This study's planned 16 months is below that.
Counting every sponsor, half of 37 studies reached it within 29 months; a quarter within 12 and three quarters within 41.
How these figures are worked out, and which studies are left out of them.
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Abu Dhabi Health Services Company