Metabolomics for IEM diagnosis
Research type
Research Study
Full title
Preliminary Clinical Validation of a Metabolomics method using High-Resolution Mass Spectrometry for the diagnosis of Inborn Errors of Metabolism
IRAS ID
365221
Contact name
Claire Hart
Contact email
Sponsor organisation
Sheffield Teaching Hospitals NHS Trust
Duration of Study in the UK
1 years, 7 months, 31 days
Research summary
This preliminary study aims to explore the use of metabolomic methods to diagnose inborn errors of metabolism (IEM) and allow the CI to develop the necessary technical and data analysis skills with a view to the long-term aim of introducing a method that can be used in routine diagnosis and in future research.
IEMs are inherited conditions that affect the ability of the individual to perform a specific function of metabolism, for instance catabolism of compounds that need to be broken down and disposed of, or synthesis of compounds which need to be created, for the correct functioning of the cell. There are a very large number of IEMs, which are individually rare but collectively present a significant health issue, particularly in children.
Current methods for diagnosis rely on carrying out multiple diagnostic tests which are typically each only able to measure a small range of chemically related metabolites.
However, the advent of newer mass spectrometry technology (high resolution mass spectrometry) and the development of so called “metabolomics” methods now allow for the possibility of being able to test for a far wider range of metabolites all at once. These methods are complex however, and require a high level of technical skill and data analysis, and so can’t easily be brought into use in a diagnostic laboratory.
This study will allow the CI to work with university specialists set up a method based on the pioneering work of other diagnostic labs, with the intention for it to become a diagnostic and research tool in the longer term. In the initial stages quality control samples that contain the metabolites of interest will be used to test the method but subsequently it will be necessary to use real patient samples to ensure that the correct diagnosis can be made by this method.REC name
East of England - Cambridge East Research Ethics Committee
REC reference
26/EE/0132
Date of REC Opinion
5 May 2026
REC opinion
Favourable Opinion