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Small molecule biochemical profiling of individual subjects for disease diagnosis and health assessment

A technology of small molecules and subjects, applied in disease diagnosis, biomaterial analysis, analytical materials, etc., can solve problems that are not widely used in diagnosing individual patient diseases

Active Publication Date: 2017-03-22
麦特博隆股份有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, metabolomics has not been widely used to diagnose disease in individual patients

Method used

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  • Small molecule biochemical profiling of individual subjects for disease diagnosis and health assessment
  • Small molecule biochemical profiling of individual subjects for disease diagnosis and health assessment
  • Small molecule biochemical profiling of individual subjects for disease diagnosis and health assessment

Examples

Experimental program
Comparison scheme
Effect test

Embodiment approach

[0076] In one embodiment, there is provided a method of diagnosing or aiding in the diagnosis of a disease or condition in a symptomatic subject by investigating a biological sample from said subject by statistical analysis for endogenous small molecules, The presence, absence, or abnormal levels of dietary small molecules, microbial small molecules, and xenobiotic small molecules to identify outliers for the small molecules that suggest that small molecules are abnormal in the sample, and list abnormal small molecules.

[0077] In another embodiment, abnormal small molecules are visualized. The visualization can display indicators for each of the pathways, including indicators of rare or missing values ​​for the pathways, showing each pathway (eg, super pathway or sub pathway) as normal / common or abnormal. Any number of pathways can be listed in the display, and any number of graphical representations can be used to present the results. In one embodiment, the graphical illu...

Embodiment 1

[0413] Example 1: Evaluation of diseased individuals in a pilot study.

[0414] To evaluate the ability to diagnose or aid in the diagnosis of disease, the method was performed on a cohort of 100 symptomatic individuals, 56 of whom had a known diagnosis (as a "positive control" for the method, N=56) and of whom 44 had an as yet unascertained diagnosis Results ("test" subjects, N=44). Plasma samples were obtained from each individual and small molecules were extracted from aliquots (typically 50-100uL) of the plasma samples. An aliquot of each sample was surveyed across a biochemical library of more than 7000 biochemicals to detect the biochemicals present in the sample. All samples were blinded for diagnosis at the time of analysis. A total of 923 biochemicals were detected, 523 named and 400 unknown. Named biochemicals represent molecules for which reliable chemical standards are available, and represent those for which reliable chemical standards have been analyzed on an ...

Embodiment 2

[0421] Example 2: Clinical Evaluation of Affected Individuals in an Expanded Study

[0422] In another embodiment, the methods described herein are used to evaluate plasma samples from 200 individuals. The 200 samples consisted of the 100 sample cohort described in Example 1 plus 100 samples from a new cohort of symptomatic individuals. All 200 samples included in this study had been analyzed using one or more targeted analyte combinations in quantitative assays performed in clinical diagnostic laboratories. The most common directional tests completed were combination assays of amino acids or acylcarnitines (108 and 26 patients, respectively). Of the 200 subjects in the pooled cohort, 132 subjects were positively diagnosed with an inborn error of metabolism (IEM) by the treating physician; for 68 subjects, a clinical diagnosis could not be determined.

[0423] Using the OrbiElite mass spectrometer in an LC-MS analytical method, each sample is surveyed across the complete lib...

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Abstract

Methods are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and / or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.

Description

[0001] related application [0002] This application claims U.S. Provisional Application No. 61 / 976,886, filed April 8, 2014, U.S. Provisional Application No. 62 / 037,422, filed August 14, 2014, and U.S. Provisional Application No. 62 / 118,338, filed February 19, 2015 priority, the contents of all said documents are hereby incorporated by reference in their entirety. Background technique [0003] Metabolomics is a rapidly evolving field aimed at measuring the totality of small molecules (metabolites) in biological samples. Metabolites represent intermediate biological processes bridging gene function, environmental influence, and health / disease endpoints (Suhre, K. and Gieger, C. Genetic variation in metabolic phenotypes: study designs and applications. Nat Rev Genet 13, 759-769 (2012)) . Metabolic phenotypes together with genomes can yield novel insights into gene function, disease pathology, and biomarkers for disease diagnosis and prognosis (Suhre, K. et al., Humanmetabolic...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G01N33/50
CPCG01N33/50G01N2800/00G01N33/487G16B40/10G01N30/72G16B40/00G16B45/00G01N30/7206G01N30/7233G01N30/88G01N2030/8813G01N2800/04G01N2800/52H01J49/0036
Inventor M·V·米尔本J·A·瑞尔斯L·郭A·埃卡尔特J·伍尔夫A·D·肯尼迪T·J·琼森R·D·米沙莱克B·韦特曼M·米歇尔
Owner 麦特博隆股份有限公司
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