Two sisters, one rare disease — and a medicine that has kept their minds steady for ten years

Niemann-Pick disease type C is a rare inherited condition in which the body cannot move cholesterol properly inside its cells. When it starts in young children, it usually takes away skills like walking and talking, step by step. New long-term results presented today at the Child Neurology Society meeting in Montréal follow two sisters treated with adrabetadex, an experimental medicine designed to get that cholesterol moving again. The younger sister, who started about ten months after her first symptoms, still has only minimal symptoms after more than ten years. Her older sister started more than four years after symptoms began — and still stabilised or improved, keeping moderate symptoms after about a decade. Wider results point the same way: among 76 people treated for up to 11 years, those who began with the mildest disease lived longest, and among 25 treated for at least five years the disease advanced more slowly than its usual course. The medicine is not approved yet — US regulators granted it Breakthrough Therapy status and are due to decide by November 17, 2026 — and the evidence so far comes from case reports and observational follow-up rather than a large controlled trial. But for families who usually measure this disease in skills lost, a decade of skills kept is a different story.

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