Earwax metabolites in children with inherited metabolic diseases vs1.0
Research type
Research Study
Full title
Measurement of a range of metabolites in ear wax from children with inherited metabolic diseases to determine whether this offers a viable diagnostic approach which can ultimately be applied in the investigation of unexplained infant death
IRAS ID
189321
Contact name
Stefan Krywawych
Contact email
Sponsor organisation
Great Ormond Street Hospital For Children Trust
Duration of Study in the UK
1 years, 0 months, 30 days
Research summary
To analyse ear wax (cerumin) collected during scheduled routine outpatient visits on cotton buds from patients with inherited disorders of metabolism, in order to ascertain whether abnormal concentrations of the characteristic diagnostic disease marker metabolites are observed also, in this tissue. A comparison, in different patients, between the concentrations of marker metabolites in ear wax with those concentrations in urine and also in plasma collected at a similar time point, will determine whether the quantitative values present in ear wax reflect those concentrations in urine and plasma. Patients will be selected so as to include various inherited metabolic defects within different areas of metabolism. These areas of metabolism will embrace amino acids, urea cycle, organic acids, mitochondrial fatty acids, guanidino metabolites and peroxisomal long chain fatty acids. Where available a maximum of three patients for each specific disorder will be included.
The ultimate aim is to determine the potential value of ear wax as a reliable and stable tissue for non-invasive diagnosis of inherited metabolic diseases, firstly for its application in cases of unexplained infant death where it can be easily obtained early after death and feasibly not be susceptible to post mortem changes and secondly, for its value in monitoring long term control.
Successful analysis of biochemical disease markers in ear wax offers the potential benefits of using a tissue which (a) can easily be collected by a non-invasive procedure, (b) having accumulated over a relatively longer period of time and containing different metabolites encapsulated in a non-reactive medium it could reflect longer term metabolic changes and overall metabolic control and (c) not being subject to post mortem changes observed in other tissues comprised of biochemically active but dying cells, it could prove a dependable tissue for the investigation of metabolic disorders in cases of unexplained death.REC name
London - Hampstead Research Ethics Committee
REC reference
16/LO/0658
Date of REC Opinion
13 May 2016
REC opinion
Further Information Favourable Opinion