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Report for Clinical Trial NCT01443806

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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
MeSH: Metabolic Diseases

1 Interventions

Name: Oseltamivir

Description: 75 mg, one time

Type: Drug

Oseltamivir, genetic testing


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)

Purpose: Basic Science

Single Group Assignment


There are 3 SNPs

SNPs


1 G143E

A study from Zhu HJ et al presented potentially 2 functional polymorphisms locating in exon 4 (Gly143Glu) and 6 (Asp260fs) that can impair the CES1 hydrolytic activity to methylphenidate in vitro. --- Gly143Glu ---


2 R182H

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


3 V21I

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



HPO Nodes