A gene therapy approved by the Food and Drug Administration in September for a rare, fatal childhood disease exists in large part because families refused to let the research die, NPR reports.
The diagnosis
Eliza O'Neill's parents noticed at about age 3 that she was falling behind on developmental milestones. In 2013, after a colleague suggested testing her for metabolic disorders, her mother Cara O'Neill, a pediatrician in Columbia, S.C., learned the result was Sanfilippo syndrome. Children with the inherited disease lack a working gene needed to break down a molecule called heparin sulfate. As it builds up, they lose the ability to speak and walk, have seizures and usually don't live past their teens, according to the Cure Sanfilippo Foundation, which the O'Neills started and still run. Her father, Glenn, said that realizing how quickly the degeneration happens was when "we said, 'Gosh. Whatever we need to do, we need to do it now.'"
Research kept alive by patients
At Nationwide Children's Hospital in Columbus, Ohio, researcher Haiyan Fu had been developing a gene therapy in mice since the late 1990s, using a modified virus to deliver a working copy of the broken gene. Funding was so hard to find that she expected to quit in 2009, but families stopped her and offered money to continue. In all, eight patient foundations kept her work going until it was ready for a human trial.
The video that paid for the trial
A trial would be costly. The O'Neills reached out to filmmaker Benjamin Von Wong, who made a video called "Saving Eliza" in 2014. It helped the family break GoFundMe's record at the time, raising $1 million within weeks and then $2 million. That money helped fund the first human trial, which began in May 2016 with Eliza as its first participant.
From trial to approval
The results drew industry interest. Biotech company Ultragenyx acquired the rights in 2022 and later submitted data to the FDA, which approved the one-time infusion, called Fayuvi, in September. Ultragenyx CEO Emil Kakkis said it works best in the youngest children. The company priced it at nearly $4 million, which research firm 46brooklyn says ties it for the second most expensive gene therapy ever. Kakkis said the company is committed to treating every patient regardless of price.
Eliza today
Eliza, almost 17, was 6 when she was treated and had already lost speech, which did not return. She communicates with picture cards and devices, attends school and this summer learned to float on a pool noodle. "I feel proud of her," her father said. Fu called approval good news but said it comes with mixed emotions: "It shouldn't take this long."
Sources: NPR