SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02416661

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease

This study should demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients

NCT02416661 Lysosomal Storage Diseases Gaucher Disease Sphingolipidoses
MeSH: Gaucher Disease Sphingolipidoses Lysosomal Storage Diseases


Primary Outcomes

Measure: To demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients

Time: 48 month

Secondary Outcomes

Measure: To correlate lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3,Quality of life measured with the SF-36

Time: 48 month

Time Perspective: Prospective

Cohort


There are 4 SNPs

SNPs


1 L444P

The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P ---


2 N370S

The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S ---

An exception is the mutation N370S, which so far has been found only in the visceral form (type1), but still may have a high phenotypic heterogeneity in GD Type 1 (Fairley et al., 2008). --- N370S ---


3 R463C

The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P --- --- R463C ---


4 R496H

The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P --- --- R463C --- --- R496H ---



HPO Nodes