There is one clinical trial.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood
FH is often associated with the mutation of R3500Q, which causes replacement of arginine by glutamine at position 3500. --- R3500Q ---
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
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