Eliza O’Neill was diagnosed with Sanfilippo syndrome, a rare metabolic disorder caused by a faulty gene that prevents the body from breaking down heparin sulfate. The condition leads to severe developmental decline, with children typically losing speech and mobility abilities and often not surviving past their teenage years.
Researcher Haiyan Fu at Nationwide Children’s Hospital in Columbus, Ohio had been developing a gene therapy approach using a modified virus to deliver a functional copy of the gene since the late-1990s. Her work faced funding challenges, and she considered stopping in 2009. However, families of affected children, including patient foundations like Ben’s Dream and a Cure for Kirby, provided financial support to keep the research alive.
When Eliza’s parents learned she would need substantial funding for a human clinical trial, they partnered with filmmaker Benjamin Von Wong to create a fundraising video in 2014. The “Saving Eliza” campaign broke GoFundMe records at the time, raising $2 million in a few weeks. This funding enabled the first human trial to begin in May 2016, with Eliza as the first patient to receive the experimental therapy.
The promising results attracted biotech company Ultragenyx, which acquired the rights to the therapy in 2022. The company continued development and submitted data to the Food and Drug Administration. The one-time infusion treatment, named Fayuvi, received FDA approval in September. Ultragenyx priced the treatment at approximately $4 million, making it one of the most expensive gene therapies available. The company stated its commitment to ensuring all eligible patients receive treatment regardless of location or other barriers.
Eliza, now almost 17, was treated at age 6 and has experienced stability in her condition. Though she did not regain her speech ability, she communicates using picture cards and assistive devices, attends school, and participates in recreational activities.
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