SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation R3500Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 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:Arcus Senilis Hyperlipoproteinemia Type II Hyperlipoproteinemia Type I Lipid Metabolism, Inborn Errors Hypercholesterolemia
HPO:Corneal arcus Hypercholesterolemia Increased LDL cholesterol concentration

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

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

HPO Nodes