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Scanned cerebellum of a mouse brain, affected by Niemann-Pick Type C, shown in pink and teal — biotech coverage from STAT — The cerebellum of a mouse brain affected by Niemann-Pick Type C. Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health

About a decade ago, Tatiana Bremova-Ertl’s graduate adviser was studying an obscure, 1950s-era French vertigo drug, probing its effects on people with balance disorders, when she thought of another, very sick group of patients.

A graduate student and medical resident at the German Center for Vertigo and Balance Disorders, in Munich, Bremova-Ertl often saw patients with Niemann-Pick Type C, a rare, genetic disease that slowly kills neurons.

NPC has a range of manifestations. When symptoms appear in early childhood, it is often fatal before adulthood. When it manifests later, it can be milder. But it’s always degenerative and leads to a cluster of challenges: cognitive decline, difficulty with speech and swallowing, enlarged liver, low muscle tone, and, notably, difficulty with balance and muscle control. Researchers and a fervent group of parents were working to develop medicines, but little had yet worked.

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