How one family gave a critical boost to gene therapy research
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family → give → research
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.
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who → need → hat
"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.
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she → go → 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.
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she → diagnose → situations
In 2013, one of Cara's colleagues suggested testing Eliza for a group of metabolic disorders — just to rule them out.
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one → suggest → them
But the test came back positive for something called Sanfilippo syndrome.
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test → come → something
Cara remembered learning about the rare inherited disease back in medical school.
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Cara → remember → school
"When they said the word, it all kind of came rushing back," she says.
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she → say → word
Children with Sanfilippo have a faulty gene that leaves them unable to break down heparin sulfate, a molecule critical to normal cell function.
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that → have → function
As it builds up in the body, it causes severe complications.
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it → build → complications
Kids with Sanfilippo lose their ability to speak and walk.
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Kids → lose → ability
They have seizures, and they usually don't live past their teens, according to the Cure Sanfilippo Foundation, which the O'Neills started and continue to run.
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O'Neills → have → which
For Eliza's dad, Glenn O'Neill, it took a little while after learning Eliza's test results for the diagnosis to sink in.
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diagnosis → take → results
"It wasn't really until I got home that I realized how quickly the degeneration happened," he says.
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he → get → ?
"And that was really the point where we said, 'Gosh.
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we → say → ?
Whatever we need to do, we need to do it now.'
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we → need → it
"
Researching a treatment
At Nationwide Children's Hospital in Columbus, Ohio, researcher Haiyan Fu had been working on a gene therapy in mice for Sanfilippo since the late-1990s.
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Fu → research → late-1990s
The therapy used a modified virus to deliver a working copy of the broken gene to patients' cells.
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therapy → use → cells
Fu realized the experimental therapy was promising.
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therapy → realize → ?
"And if we treat early, it could be potentially a cure," she says.
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she → treat → ?
"So I can't give up."
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I → give → ?
Keeping it going – and funded – was challenging, though.
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Keeping → keep → it
She thought she would have to quit in 2009.
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she → think → 2009
But the families of kids with Sanfilippo stopped her.
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families → stop → her
"They said, 'You can't leave.
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You → say → ?
Can we give you some of the funds for you to, you know, carry on?'"
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you → give → funds
Fu recalls, explaining that these families had helped her from the beginning and didn't want to see her work stop.
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work → recall → beginning
In all, eight patient foundations, including Ben's Dream and a Cure for Kirby, kept Fu's work going until the research was ready for the first human trial.
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research → include → trial
Raising the money
But a clinical trial would be expensive.
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trial → raise → money
Glenn O'Neill had an idea for how to raise the money.
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O'Neill → have → money
"We reached out on a whim to some strangers that we found on the internet about making a viral video," he says, referring to filmmaker Benjamin Von Wong, who made them a video over a few days in 2014.
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them → reach → 2014
It worked.
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It → work → ?
In the spring of 2014, the Saving Eliza video helped the O'Neills break GoFundMe's record at the time, raising a million dollars in just a few weeks.
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O'Neills → save → weeks
Soon, it hit $2 million.
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it → hit → million
The money raised helped fund the first human trial, which started in May 2016.
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which → raise → May
The experiments were promising enough for the biotech industry to take notice.
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industry → take → notice
Ultimately, a biotech company called Ultragenyx acquired the rights to the gene therapy in 2022 and kept studying it.
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company → call → it
A few years later, the company submitted data to the Food and Drug Administration for review.
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company → submit → review
The FDA approved the gene therapy in September.
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FDA → approve → September
The one-time infusion is called Fayuvi.
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infusion → call → ?
…and 20 more, not listed.
The Aporia
