SNPMiner Trials (Home Page)
Report for Mutation N215S
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study
Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.
NCT01429597 Cerebrovascular Accident Stroke, Acute Cerebral Stroke MeSH:Stroke Fabry Disease Cardiomyopathies
HPO:Angiokeratoma corporis diffusum Cardiomyopathy Stroke
Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study. --- N215S ---
Fabry and Cardiomyopathy (FaCard) Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---
analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---
Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Fabry Disease Cardiomyopathies Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S ---
Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Fabry Disease Cardiomyopathies Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S --- --- N215S ---
Summarizing, newborn screening identified a surprisingly high frequency of Taiwanese males with Fabry disease (approximately 1 in 1,250), 86% having the IVS4+919G>A mutation previously found in later-onset cardiac phenotype patients.The late-onset mutation N215S is discussed to be a so-called cardiac variant (Perry Elliott, 2006; Eng et al., 1993, Sachdev et al., 2002). --- N215S ---
Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T --- --- N215S ---
concluded that Gb3 is not an ideal biomarker using the example of N215S. --- N215S ---
Furthermore, he had mild congestive heart failure, a reduced left ventricular ejection fraction, and hypercholesterolemia. Thus, it is obvious that in Fabry patients with the N215S mutation disease progression can be mono- to oligosymptomatic, but show a tendency for the cardiac and renal phenotype rather than classical manifestation. --- N215S ---