Today, NPR's neuroscience correspondent Jon Hamilton checks in with Emily about this tough call for regulators: how do you weigh promising but limited evidence – and the pleas of patients desperate for hope – against the backdrop of a 100% fatal disease with hardly any other treatment options?
Variants in serine palmitoyltransferase, long-chain base subunit 1 (SPTLC1), a gene which encodes to an enzyme involved in the de novo synthesis of sphingolipids, are associated with juvenile amyotrophic lateral sclerosis (ALS), according to study results published in JAMA Neurology.