SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03198897

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood

NCT03198897 Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Corneal Arcus
MeSH: Hypercholesterolemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type I Lipid Metabolism, Inborn Errors Arcus Senilis
HPO: Corneal arcus Hypercholesterolemia Increased LDL cholesterol concentration


Primary Outcomes

Description: Next-Generation Sequencing (NGS) of the following genes: LDLR, APoB, PCSK9 and LDLRAP1 will be performed. The mutation will be confirmed by Sanger sequencing.

Measure: Sequencing of the Homozygous Familial Hypercholesterolemia disease related genes

Time: 4 weeks

Secondary Outcomes

Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Measure: The Homozygous familial Hypercholesterolemia specific biomarker candidates finding

Time: 24 months

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 R3500Q

FH is often associated with the mutation of R3500Q, which causes replacement of arginine by glutamine at position 3500. --- R3500Q ---



HPO Nodes


HPO:
Corneal arcus
Genes 7
APOB SLC29A3 ALDH18A1 KERA CHRDL1 APOE LDLR
Hypercholesterolemia
Genes 39
GHR LDLRAP1 PHKA2 FLII PYGL APOB LIPA OCRL SETX APOC3 CAV1 DEAF1 CAV3 APOE CCDC115 TDP1 SLC7A7 LMNA NUP107 RSPO1 TTPA CYP7A1 LDLR PIK3R5 CETP COG4 ABCG5 ABCG8 SLC25A13 JAG1 DGAT1 RAI1 APTX IQSEC2 CYP27A1 PCSK9 CEP19 DYRK1B TMEM199
Increased LDL cholesterol concentration
Genes 22
SLC7A7 LMNA FHL1 LDLRAP1 TTPA CYP7A1 LDLR ABCG5 SMPD1 ABCG8 SYNE1 APOB TMEM43 LPL SYNE2 PCSK9 CEP19 EMD LCAT APOE CCDC115 TMEM199