Ignite Creation Date:
2024-10-26 @ 3:36 PM
Last Modification Date:
2024-10-26 @ 3:36 PM
Study NCT ID:
NCT06535542
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-06-28
Brief Title:
Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
Sponsor:
None
Organization:
None
Study Overview
Official Title:
A Randomized Trial of Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
Status:
RECRUITING
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
Detailed Description:
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 UKs 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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None