Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Apostolos Papandreou, Ivan Doykov, Justyna Spiewak and 7 others
PMID 35833379WHAT IT FOUND
A bloodspot biomarker panel accurately identified Niemann-Pick type C in a cohort of children with suspected neurometabolic disease.
Using multiple markers together, rather than one alone, reduced false positives and distinguished affected patients from those with other genetic conditions.
Key findings
01Multivariate analysis of a bloodspot biomarker panel significantly increased specificity in discriminating Niemann-Pick type C from non-Niemann-Pick type C cases.
02The ratio of hydroxylated C24 isoforms of glucosylceramide to ceramide dihexoside allowed significant separation of the Niemann-Pick type C group with no overlap with other patient samples.
03Using multiple biomarkers in a multiplex assay reduced false-positive results compared to using single markers, as some patients with other genetic conditions had overlapping levels for individual biomarkers.
STILL TO COME
How it was doneWhat they found
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
Only five patients with genetically confirmed Niemann-Pick type C were included in the analysis. The adult comparison group was not age-matched to the paediatric patients, so normal paediatric biomarker ranges are not fully established. Patients with Niemann-Pick types A and B, and Niemann-Pick type C carriers, were not included, despite known potential for biomarker overlap. Oxysterols were excluded from the assay due to technical issues with blood spot extraction.
Declared interests
Funding was provided by Actelion Pharmaceuticals, Action Medical Research, the British Paediatric Neurology Association, and the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre.
The easy way to misread this
Do not assume this panel is ready for clinical use or that it solves diagnostic uncertainty for all neurometabolic disorders. The study included only five confirmed cases of Niemann-Pick type C and lacked age-matched paediatric controls, meaning the reported specificity may not hold in broader, real-world populations.