Blood biomarkers for adult and childhood dementia — The Association Specialists
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Blood biomarkers for adult and childhood dementia (22211)

Prashant Bharadwaj 1 2 , Fraulien Arigo 1 2 , Maina Kava 3 4 , Ralph Martins 1 2 5
  1. Edith Cowan University, Nedlands, WA, Australia
  2. Alzheimer's Research Australia, Nedlands, WA, Australia
  3. Perth Children's Hospital, Perth, WA, Australia
  4. UWA Medical School, University of Western Australia, Perth, WA, Australia
  5. Macquarie University, Sydney, NSW, Australia

Objective: Childhood dementia (CD) is caused by more than 100 rare genetic disorders, and it is estimated that 143 children are living with dementia in Western Australia (WA). Monitoring of neurocognitive function is challenging in CD and a reliable blood test to assess neurodegeneration is a health care priority. Lysosomal storage disorders (LSDs) contribute to 20% of all CD and our main objective is to assemble a cohort of children affected by LSDs, determine changes in blood biomarkers and evaluate its association with neurodegeneration.

Methods: The participants for this study will include children with a confirmed, documented diagnosis of LSD and age-matched healthy controls. Participants for this study were recruited through Perth Children’s Hospital (Ethics RGS5097). The research plan will focus on developing a combined signature of protein and gene biomarkers using SIMOA (SIngle MOlecule Array), Olink and RNA sequencing technologies. Diagnostic biomarkers for CD including oligosaccharides in urine and gangliosides in blood plasma will also be quantified.

Findings: Our LSD patient cohort currently comprises of mucopolysaccharidosis (MPS) type 1 (n= 1), MPS type II (n = 1), MPS type III (n =3), MPS type IV (n=2), Batten disease (n=2), Neurodegeneration with Brain Iron Accumulation (n=1) and Adrenoleukodystrophy (n = 3). Baseline collection of samples is complete, and analysis of protein, gene and diagnostic biomarkers is underway. In addition to improving prognosis, access to clinical trials and care pathways for WA children, this study will establish WA as a world leader and improve outcomes for children with dementia globally.