Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood ‐onset dementia

Peripherally accessible biomarkers are urgently required to provide a prognosis for children with pre-symptomatic Sanfilippo syndrome, enabling early trial/treatment access and optimal outcomes. Furthermore, clinical trials require biomarkers to better stratify patients into treatment groups and measure neurocognitive outcomes. The development of biomarkers relies on the appropriate targeting of neuropathological pathways involved in each disease context, as addressed in this review. Extraction of brain-derived vesicle-encapsulated synaptic and mitochondrial proteins, as well as quantification of neuroinflammatory and neuroaxonal damage markers available in the blood, may provide prognostic, progression and neurocognitive response-to-treatment evaluations, respectively. AbstractSanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing dementia in children, following an essentially normal early developmental period. First symptoms typically include delayed language development, hyperactivity and/or insomnia from 2  years of age, followed by unremitting and overt loss of previously acquired skills. There are no approved treatments, and the median age of death is 18 years. Treatments under clinical trial demonstrate therapeutic benefit when applied pre-symptomatically in children diagnosed early through kno wn familial inheritance risk. Newborn screening for Sanfilippo syndrome would enable pre-symptomatic diagnosis and optimal therapeutic benefit, h...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: REVIEW Source Type: research