SNPMiner Trials by Shray Alag


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Report for Mutation E200K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Procedure: collect CSF (Cerebrospinal fluid) sample
MeSH:Prion Diseases Creutzfeldt-Jakob Syndrome

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

Primary Outcomes

Measure: Thrombin activity assay

Time: 10 years


HPO Nodes