Two sisters, ten years, one rare disease held at bay

For two sisters with infantile-onset Niemann-Pick disease type C — a rare condition in which children progressively lose the ability to walk, communicate and develop — a decade is a gift few families expect. New long-term data presented at the Child Neurology Society meeting in Montreal on October 15 follows both sisters through ten years on adrabetadex, an investigational medicine from Beren Therapeutics that targets the faulty cholesterol handling at the root of the disease. The older sister started treatment more than four years after her symptoms began and has stabilised or improved; her younger sister, treated about ten months after symptoms appeared, has kept minimal symptoms for ten years. Across 76 people treated for up to 11 years, those who started earliest fared best. The drug is not yet approved — US regulators are reviewing it, with a decision expected in November — but for families measuring time in milestones kept, ten steady years speak loudly.

SDG 3 · Good health and well-being — Mechanism: tech innovation