Rare disease, first treatment: Noa with Canavan reaches milestones

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When 10-month-old Noa Greenwood was diagnosed with Canavan, her parents Lee and Lori were confronted with an idea of a future they’d never prepared for. Canavan is a rare, inherited neurodegenerative disease caused by mutations in the ASPA gene. Most children with it never develop beyond the abilities of a six-month-old.

The very day that Noa was diagnosed, a trial for Canavan therapy was posted on clinicaltrials.gov. She was among the first children ever dosed. Within months, she began hitting milestones her parents were told she’d never see.

Only a few years ago, this story would not have been possible. As with many rare diseases, Canavan represented too small a market for traditional pharma to fund, even when medical researchers had found potential cures. So BridgeBio developed a new model built around portfolio theory: instead of investing in one rare disease treatment at a time, spread the risk across 150 of them. Noa’s story offers hope — not only to those impacted by Canavan disease, but also to the 450 million people suffering from rare diseases worldwide.

This video These life-saving treatments were considered ‘too small’ to fund. Until now. is featured on Big Think .