ResearchBIORXIV2 days ago
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
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.
WHY IT MATTERSFor 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.