How Two Mothers Discovered That a Drug for One Rare Disorder Might Benefit Another

When Lara Pullen’s son was diagnosed with Prader-Willi syndrome, she began to dive into the scientific literature about the rare condition. Pullen, a scientist and co-founder of the Chion Foundation, discovered that pitolisant, a recently approved drug for narcolepsy, might benefit patients with Prader-Willi. Working with her Chion co-founder, Maria Picone, who developed an online data-gathering platform for patient-reported outcomes, they tracked the effects of the drug in three patients. In a clinical vignette published in the Journal of Pediatric Pharmacology and Therapeutics in April, they reported their findings. We spoke to Pullen about her efforts, the value of patient-reported outcomes, and why the work she’s done suggests the need for a more neurologically-based approach to treating Prader-Willi.

Learn more about this and other rare disease innovations in the Global Genes report, NEXT: Imagining the Future of Rare Disease.

Prader-WilliRepurposing