From NPR · · 3m
Family's fundraising helped bring gene therapy to market
The O'Neills raised millions for research into Sanfilippo syndrome after their daughter's diagnosis, helping bring an FDA-approved treatment to patients.
In brief
The O'Neills raised millions for research into Sanfilippo syndrome after their daughter's diagnosis, helping bring an FDA-approved treatment to patients. A family affected by Sanfilippo syndrome raised millions for gene therapy research that led to FDA approval of Fayuvi, a one-time infusion priced at nearly four…
A diagnosis changes everything
Eliza O'Neill seemed like a typical young child until age three, when her parents noticed developmental delays. Testing revealed Sanfilippo syndrome, a rare inherited disease.
What Sanfilippo does to children
Children with Sanfilippo have a faulty gene that leaves them unable to break down heparin sulfate.
Parents decide to act
Glenn O'Neill, Eliza's father, realised how quickly the degeneration happened. He and his wife Cara, a pediatrician in Columbia, South Carolina, decided they needed to do whatever was necessary.
“Whatever we need to do, we need to do it now.”
Researcher working on a cure
At Nationwide Children's Hospital in Columbus, Ohio, researcher Haiyan Fu had been working on a gene therapy for Sanfilippo since the late nineteen nineties.
Families keep research alive
Fu thought she would have to quit in two thousand nine.But families of children with Sanfilippo stopped her, offering funds to keep her work going.
“You can't leave. Can we give you some of the funds for you to carry on?”
A viral video raises millions
Glenn O'Neill reached out to filmmaker Benjamin Von Wong, who made a video in two thousand fourteen.
First human trial begins
The money raised helped fund the first human trial, which started in May two thousand sixteen. The experiments were promising enough for the biotech industry to take notice and pursue further development.
Biotech company takes over
A biotech company called Ultragenyx acquired the rights to the gene therapy in two thousand twenty two and kept studying it.
FDA approves Fayuvi
The FDA approved the gene therapy in September. The one-time infusion is called Fayuvi. Ultragenyx set the price at nearly four million dollars, tying it for the second most expensive gene therapy ever.
Treating children early works best
Ultragenyx CEO Emil Kakkis says the treatment works best when children are very young, before they lose brain function.Kids treated at six months have done really well, and early treatment produces better gene therapy results.
“The treatment will work best the younger the child is because the more brain is remaining.”
Eliza's life after treatment
Eliza was the first patient to receive the gene therapy in two thousand sixteen at age six.She had already lost her ability to speak, which never returned, but she communicates with picture cards and devices.
A bittersweet milestone
Researcher Haiyan Fu received calls from Cara O'Neill and other families who had funded her research when Fayuvi was approved.Some had lost a child along the way.
“It shouldn't take this long.”
The headline
A family affected by Sanfilippo syndrome raised millions for gene therapy research that led to FDA approval of Fayuvi, a one-time infusion priced at nearly four million dollars.
