Patient Families Funded Sanfilippo Gene Therapy Research Until the FDA Approved a Treatment

The first approved treatment for Sanfilippo syndrome exists in large part because parents of sick children refused to let the research die.

The disease is a rare inherited disorder. Children with Sanfilippo carry a faulty gene that leaves them unable to break down heparin sulfate, a molecule cells need to function. It builds up and does damage. According to the Cure Sanfilippo Foundation, affected kids lose the ability to speak and walk, develop seizures, and usually do not live past their teens.

A diagnosis in 2013

Eliza O'Neill was a little girl who loved accessories, hats and scarves and her mother's high heels. By age 3, her parents noticed she was falling behind on developmental milestones. She was first diagnosed with a pragmatic speech delay.

In 2013, a colleague of her mother, Cara O'Neill, a pediatrician in Columbia, South Carolina, suggested testing Eliza for a group of metabolic disorders just to rule them out. The test came back positive for Sanfilippo.

Cara remembered the disease from medical school. "It was just this bale of dread," she told NPR.

Her husband, Glenn O'Neill, said the speed of the degeneration hit him after he got home. "That was really the point where we said, 'Gosh. Whatever we need to do, we need to do it now.'"

Research that nearly ended in 2009

At Nationwide Children's Hospital in Columbus, Ohio, researcher Haiyan Fu had been working on a Sanfilippo gene therapy in mice since the late 1990s. The approach uses a modified virus to deliver a working copy of the broken gene into patients' cells.

Fu believed early treatment could change the outcome. "If we treat early, it could be potentially a cure," she said.

Money was the problem. Fu thought she would have to quit in 2009. Families of children with Sanfilippo, who had helped her from the start, stepped in.

"They said, 'You can't leave. Can we give you some of the funds for you to, you know, carry on?'" Fu recalled.

Eight patient foundations, including Ben's Dream and Cure for Kirby, kept the work going until it was ready for a first human trial.

The "Saving Eliza" campaign

A clinical trial costs far more than a bake sale can cover. Glenn O'Neill said the family reached out "on a whim" to strangers they found on the internet about making a viral video.

It worked. In spring 2014, the "Saving Eliza" video helped the O'Neills break GoFundMe's record at the time, raising $1 million in a few weeks. The total soon passed $2 million.

The O'Neills also started the Cure Sanfilippo Foundation, which they continue to run.

From trial to approval

The first human trial began in May 2016. Eliza was the first person to receive the experimental therapy for her disease.

The FDA has since approved the first treatment for Sanfilippo syndrome. NPR's Sydney Lupkin reported that for many families the approval is a dream come true, but for some it is also bittersweet.

The timeline is long. Fu began her mouse work in the late 1990s. Eliza was diagnosed in 2013. The first patient was dosed in 2016. Approval came years after that.

The sequence is clear from the people involved. A researcher who was about to give up was kept going by patient foundations. A family with a sick daughter raised seven figures in weeks on a crowdfunding site. That money helped move the work from the lab into people.

The account leaves open questions about how many other rare-disease programs stall at the same funding gap, and how many families can run a viral campaign on a few weeks' notice. The O'Neills' foundation, along with the other patient groups, has not said what it will fund next.