Utilizing the ASM-KO mouse colony we maintain at Jackson Lab, we are collecting plasma and CSF from a young (2 month), and older (5 month) groups of ASM-KO mice along with matched controls for both age groups. The goal is to identify potential markers that can aid in better understanding and predicting the neurologic onset and progression of ASMD-A, and ASMD-A/B patients.
Biomarkers can assist in understanding which treatment options may be available for patients, as well as if a treatment is demonstrating efficacy in a particular patient population. Such relevant biomarkers are critical for initiating and conducting a successful clinical trial. Ultimately we would like to find a marker in blood/plasma that may correlate with the progressions and severity of disease manifestations in the Central Nervous System (CNS), making it more feasible to implement in a clinical setting.