STAT+: The quest to save Grace — and clear the way for rare disease patients everywhere
Get the Health newsletter
Daily health & science — research, biotech, public health, the studies worth knowing. Free.
- Matt Wilsey has spent a decade and $70 million developing a gene therapy for his 15-year-old daughter Grace, who has NGLY1 deficiency — an ultra-rare genetic condition that has prevented her from ever speaking or walking with ease.
- Wilsey's company has treated 10 patients, including Grace, in a clinical trial, but is out of money and still lacks what the FDA says it needs for approval.
- Grace received the gene therapy three weeks before the article's main scene; the treatment subsequently landed her back in the hospital, feebler than she had ever been.
- Wilsey recruited Nobel Prize winners as advisers, brought together families of other NGLY1 children, and assembled investors and donors — efforts the article says were sustained by his Catholic faith.
- Wilsey is pressing the FDA anyway, setting up what the article calls a pivotal test case for regulators and for anyone developing treatments for patients facing deadly rare diseases.
Why it matters: The FDA's response will determine whether Wilsey's parent-led, donor-backed model for ultra-rare disease drug development can reach approval, with Wilsey hoping his playbook serves the hundreds of other rare diseases he wrote about targeting. With $70 million spent, 10 patients treated, and no money left, the agency holds the outcome.
