FDA approves $4 million gene therapy after family-driven research

Parents of children with Sanfilippo syndrome now face a steep financial decision. The Food and Drug Administration approved a new gene therapy in September, setting the price for the one-time infusion at nearly $4 million. This cost ties the treatment for the second most expensive gene therapy ever, according to drug price research firm 46brooklyn. The approval follows a clinical pathway that began with a specific family's effort to fund early research.

The therapy targets a rare inherited condition where a faulty gene prevents the body from breaking down heparin sulfate. This buildup causes severe complications, including seizures and the loss of speech and mobility. Most patients do not live past their teenage years. The O'Neill family in Columbia, S.C., became the face of the condition after their daughter Eliza was diagnosed at age three. Her parents, Cara and Glenn O'Neill, started the Cure Sanfilippo Foundation to advance treatments.

Researcher Haiyan Fu at Nationwide Children's Hospital in Columbus, Ohio, had been developing a viral vector therapy in mice since the late 1990s. She planned to stop her work in 2009 due to funding gaps. Patient families intervened, providing personal funds to keep the lab running. Eight foundations, including Ben's Dream and a Cure for Kirby, supported the research until it reached the stage for human trials. Glenn O'Neill helped bridge the remaining gap by organizing a viral video campaign in 2014. The effort broke a GoFundMe record at the time, raising $1 million in weeks and eventually reaching $2 million to fund the first human trial, which started in May 2016.

Biotech company Ultragenyx acquired the rights to the therapy in 2022 and continued its study. The company submitted data to the FDA, which granted approval this year. Emil Kakkis, Ultragenyx CEO, stated that the treatment works best when administered to infants. He noted that children treated at six months of age showed strong results, while those diagnosed between two and four years old had already lost developmental ground. The company aims to remove logistical barriers to access, such as state rules or site locations, to ensure patients receive the infusion.

Eliza O'Neill, who is now nearly 17, was the first patient to receive the therapy in 2016. She was six years old at the time and had already lost the ability to speak. While her speech did not return, she communicates using picture cards and devices and attends school. This summer, she learned to float on a pool noodle. Fu received a call from Cara O'Neill immediately after the FDA announcement, along with messages from other families who had funded her work. Some of those families had lost children during the research period. Fu described the approval as mixed news, stating that the process should not have taken so long.

The approval marks the end of a two-decade research effort that relied heavily on private family funding before industry acquisition. The therapy remains available to patients who can access the $4 million cost. The O'Neill family continues to run the foundation that helped initiate the research. The price point places the drug in the upper tier of specialized medical treatments, a category that has grown in recent years.