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 weeksSecondary 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