Preprint: Development and fit for purpose validation of a quantitative LC-MS/MS method for heparan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis type IIIA
WHY IT MATTERS
For MPS IIIA patients and families, this validated biomarker could enable earlier detection of disease progression and provide objective evidence of whether emerging gene and enzyme therapies are actually reducing the toxic buildup in the brain.
Scientists developed a new test that measures heparan sulfate (a substance that builds up in the brain and spinal fluid) in patients with Sanfilippo syndrome type A. This test could help doctors track whether the disease is getting worse and whether new treatments are working. The test uses advanced laboratory technology to get accurate measurements from spinal fluid samples.
Development and fit for purpose validation of a quantitative LC-MS/MS method for heparan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis type IIIA Authors: Bystrom, C. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: BackgroundMucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome) is a fatal neurodegenerative lysosomal storage disorder caused by impaired degradation of heparan sulfate (HS). Despite rapid advances in gene and enzyme therapies, there remains a critical need for an analytically validated, quantitative biomarker that accurately reflects central nervous system (CNS) substrate burden. Such biomarker would be a valuable tool in assessing disease progression and monitoring therapeutic efficacy. ObjectiveThis study describes the method development, fit for purpose validation, and prelimin