The iminosugar N-butyldeoxyjyrinomicin (miglustat) was reported to ameliorate neurologic phenotype of a murine NPC model. Initially used successfully in Gaucher and NPC diseases, concerns about ...

More information: Joanna Su Xian Chong et al, Additive effects of cerebrovascular disease functional connectome phenotype and plasma p‐tau181 on longitudinal neurodegeneration and cognitive ...

Today, we are honored to stand united with the NPC and broader rare disease community and reaffirm our commitment to raising awareness of remaining unmet need and championing the work ahead.” ...