Sanfilippo syndrome is a fatal inherited condition caused by a faulty gene that prevents the breakdown of heparin sulfate, leading to seizures, severe developmental decline, and early death. Seeking a cure for their daughter, Eliza's parents created the Cure Sanfilippo Foundation and raised over $2 million to fund research by Haiyan Fu and initiate human trials in May 2016. Biotech firm Ultragenyx later acquired the therapy, securing FDA approval for the drug under the brand name Fayuvi. The one-time infusion carries a price tag of nearly $4 million, ranking it among the most expensive gene therapies ever approved.
Key points
Grassroots funding by patient advocates directly financed the initial human clinical tria…: Grassroots funding by patient advocates directly financed the initial human clinical trial in May 2016.
The newly approved therapy ties for the second most expensive gene therapy ever at nearly…: The newly approved therapy ties for the second most expensive gene therapy ever at nearly $4 million.
Medical experts emphasize that the one-time infusion provides the best outcomes when admi…: Medical experts emphasize that the one-time infusion provides the best outcomes when administered as early as possible.
Sources checked by our analysis pipeline: 1
A family's fundraising for gene therapy research pays off
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When Eliza O'Neill was little, she was one of those kids who always needed to have an accessory, like a hat or a scarf.
"She would always go get my high heels from the closet and clop around in those — which she scared us to death," says her mom, Cara O'Neill, a pediatrician in Columbia, S.C.
But by the time Eliza turned 3, her parents noticed she was falling behind on developmental milestones. She was diagnosed with a pragmatic speech delay, meaning she had learned a lot of words, for example, but she wasn't using them in a typical way in social situations.
In 2013, one of Cara's colleagues suggested testing Eliza for a group of metabolic disorders — just to rule them out.
But the test came back positive for something called Sanfilippo syndrome.
Cara remembered learning about the rare inherited disease back in medical school.
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