SNPMiner Trials by Shray Alag

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Report for Mutation V21I

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Characterisation of the Human Carboxylesterase 1 (CES1) Mutation(s) Which May be Responsible for Markedly Reduced Conversion of Oseltamivir Phosphate to Oseltamivir Carboxylate

The aim of this study is to evaluate the conversion of OP to OC in individual X and the family member of individual X. The investigators hypothesize that one or more of the single nucleoprotein polymorphisms (SNPs) of the CES1 gene represent a clinically important functional polymorphism.

NCT01443806 Metabolic Disease Drug: Oseltamivir
MeSH:Metabolic Diseases

However, some CES1 variants (V21I, and R182H) have a higher rate of oseltamivir metabolism compared to wild-type. --- V21I ---

Primary Outcomes

Description: Conversion of Oseltamivir at 2 and 4 hours post dose

Measure: Tmax

Time: 2 and 4 hours

Secondary Outcomes

Description: Document the sequence of all 14 exons of CES1 from individual X and the family members of individual X.

Measure: Conversion of oseltamivir phosphate to oseltamivir carboxylate

Time: one year (anticipate)

HPO Nodes