SNPMiner Trials by Shray Alag

SNPMiner Trials: Clinical Trial Report

Report for Clinical Trial NCT02480725

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

The Role of the Coagulation Pathway at the Synapse in Prion Diseases

The study hypothesis is that that the deleterious effect of prions on the brain may be mediated (at least partially) by activation of serine proteases involved in the coagulation system. If this is true, then measurement of the activity of the coagulation system may be a marker of disease onset (in at higher risk individuals such as E200K* carriers) and for disease progression or activity in affected individuals. In addition, modulation of the coagulation system activity may be a potential tool for therapeutic intervention. *E200K- E200K mutation (Glu to Lys substitution) in the prion protein gene

NCT02480725 Creutzfeldt-Jakob Syndrome
MeSH: Prion Diseases Creutzfeldt-Jakob Syndrome

1 Interventions

Name: collect CSF (Cerebrospinal fluid) sample

Description: collecting CSF samples for thrombin activity assay

Type: Procedure

non-CJD patients with a type of dementia

Primary Outcomes

Measure: Thrombin activity assay

Time: 10 years

Time Perspective: Prospective


There is one SNP


1 E200K

*E200K- E200K mutation (Glu to Lys substitution) in the prion protein gene Thrombin activity assay. --- E200K ---

HPO Nodes