How one family gave a critical boost to gene therapy research

Key Points:

• Eliza O'Neill was diagnosed with Sanfilippo syndrome, a rare genetic disorder causing severe neurological decline and usually fatal by the teenage years, after showing developmental delays as a toddler.
• Researcher Haiyan Fu developed a promising gene therapy for Sanfilippo syndrome, sustained by funding from patient families and foundations, leading to a clinical trial starting in 2016.
• The O'Neill family raised over $2 million through a viral GoFundMe campaign to support the first human trial, which ultimately attracted biotech company Ultragenyx to acquire and continue the therapy's development.
• The FDA approved the gene therapy, called Fayuvi, in September; it is a one-time infusion priced at nearly $4 million and works best when administered early in life.
• Eliza, the first patient treated in the 2016 trial at age 6, has not regained speech but can communicate with assistive devices and continues to participate in activities, reflecting both the therapy's promise and the ongoing challenges of Sanfilippo syndrome.