Clearwater family funded approved Sanfilippo therapy

In Clearwater, Florida, the O'Neill family has played a central role in the development of a new treatment for Sanfilippo syndrome. Their efforts helped secure funding for the first human clinical trial of a gene therapy that received FDA approval in September of this year.

Cara O'Neill, a pediatrician from Columbia, South Carolina, first noticed her daughter Eliza falling behind on developmental milestones when the girl turned three. A test administered in 2013 confirmed the rare inherited disorder. Sanfilippo syndrome is caused by a faulty gene that prevents the body from breaking down heparin sulfate, leading to severe physical and cognitive complications.

Glenn O'Neill, Eliza's father, described the urgency the diagnosis created for their family. He stated that once the rapid nature of the degeneration became clear, they decided to act immediately to find a solution. The family connected with Haiyan Fu, a researcher at Nationwide Children's Hospital in Columbus, Ohio, who had been studying gene therapy for the condition in mice since the late 1990s.

Fu's work relied on a modified virus to deliver a functional copy of the broken gene to patient cells. Although she feared quitting in 2009 due to funding challenges, eight patient foundations, including groups started by the O'Neills, provided the financial support needed to continue the research. This collective effort kept the project alive until it was ready for human trials.

To raise the substantial costs for the clinical trial, Glenn O'Neill reached out to filmmaker Benjamin Von Wong in 2014 to create a viral video. The resulting video, titled Saving Eliza, helped the family break the GoFundMe record at the time. The campaign raised one million dollars in just a few weeks and eventually reached two million dollars, which funded the first human trial that began in May 2016.

The positive results from the early trials attracted the attention of biotech companies. In 2022, Ultragenyx acquired the rights to the therapy and continued its study. The company submitted data to the Food and Drug Administration for review, leading to the approval of the one-time infusion named Fayuvi. Ultragenyx CEO Emil Kakkis noted that the treatment is most effective when administered to younger children, as they retain more brain function.

Ultragenyx set the price for Fayuvi at nearly $4 million, making it the second most expensive gene therapy ever according to drug price research firm 46brooklyn. Kakkis stated that the company is committed to treating patients regardless of logistical or state-based barriers. Eliza O'Neill, who is now almost 17, was the first patient to receive the therapy in the 2016 trial. Although she lost the ability to speak before treatment, she now communicates using picture cards and devices and attends school.