SNPMiner Trials by Shray Alag


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Report for SNP rs3184504

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Impact of LDL-cholesterol Lowering on Platelet Activation

The primary goal is to assess the impact of Evolocumab therapy on platelet function of familial hypercholesterolemia (FH) patients in a randomized, double blind study. Evolocumab is a humanized monoclonal antibody that targets circulating PCSK9, increases hepatic LDL receptor, decreases plasma LDL cholesterol and reduces risk of cardiovascular events. Evolocumab (brand name Rapatha) has been approved by FDA along with diet and maximally tolerated statin therapy in adults with FH or atherosclerotic heart or blood vessel problems, who need additional lowering of LDL cholesterol. The secondary goal is to determine if platelet activation or the response to Evolocumab therapy is modified by rs3184504 polymorphism. The investigators believe that these investigations will complement ongoing studies to demonstrate that Evolocumab reduces athero-thrombotic risk and aid the decision-making as to whether Evolocumab can reduce the atherothrombotic risk in ACS patients.

NCT03331666 Familial Hypercholesterolemia Drug: Evolocumab
MeSH: Hyperlipoproteinemia Type II Hypercholesterolemia
HPO: Hypercholesterolemia Increased LDL cholesterol concentration

The secondary goal is to determine if platelet activation or the response to Evolocumab therapy is modified by rs3184504 polymorphism.

Primary Outcomes

Description: ADP-stimulated platelet aggregation as assessed by the commercially-available VerifyNow P2Y12 assay (Accriva Diagnostics) will be performed. Unit: PRU.

Measure: Change in P2Y12 Reaction Units

Time: Day 7, Day 14, Day 21, Day 28, Day 84, Day 196.

Secondary Outcomes

Description: Platelet activation measured by flow cytometry or commercially-available enzyme-linked immunoassays (ELISAs). Reported as % positive cells (out of 50,000 cells counted) showed a mean reduction ± standard deviation (SD)

Measure: Change in platelet P-selectin level

Time: Day 7, Day 14, Day 21, Day 28, Day 84, Day 196


HPO Nodes


Hypercholesterolemia
Genes 65
TTPA LDLR LDLRAP1 LDLR SLC7A7 CYP7A1 APOE APOB JAG1 CAV1 DEAF1 CCDC115 ABCG8 TDP1 RAI1 COG4 GHR NUP107 APOA2 CAV1 CAV3 NUP107 GHR OCRL IQSEC2 LPL CETP MEF2A APOB SLC25A13 PPP1R17 LRP6 ABCG8 APTX LPL CYP27A1 CEP19 PHKA2 LIPA LDLRAP1 FLII TMEM199 RAI1 TDP1 PIK3R5 RSPO1 PHKG2 LIPA ALB OCRL SETX PHKA2 EPHX2 LMNA RAI1 DYRK1B APOC3 LMNA PCSK9 SLC25A13 PCSK9 PYGL SLC25A13 ABCG5 DGAT1
Increased LDL cholesterol concentration
Genes 26
TTPA EMD SMPD1 LMNA LDLRAP1 LDLR TMEM199 SLC7A7 CYP7A1 TMEM43 APOE APOB SYNE1 CCDC115 LCAT ABCG8 LMNA FHL1 SYNE2 SMPD1 LMNA SLC25A13 PCSK9 LPL CEP19 ABCG5