A six-year-old girl has become the first person to receive gene therapy for Sanfilippo syndrome, Today reports. Patients with Sanfilippo lack a certain enzyme and cannot break down long-chain sugars, leading to progressive worsening of mental status — Today says the condition is sometimes called 'childhood Alzheimer's disease.' It's a rare recessive disorder, affecting one in 70,000 births.
As Today reports, Eliza O'Neill has Sanfilippo type A, which is the more severe form of the disease. After she was diagnosed, her parents, Cara and Glenn O'Neill, learned of a promising gene therapy study that had been conducted in mice, but that had struggled to find funding for a trial in humans. The O'Neills raised more than $1.8 million to start a clinical trial, according to Today.
And Eliza was the first patient to take part. "Eliza's future is uncertain right now and that's a fabulous thing for a Sanfilippo parent because prior to treatment, Eliza's future was definite: suffering, degeneration, seizures, feeding tubes, wheelchairs and death," Glenn O'Neill says. "Now her future is uncertain and we think that's a great thing because of the potential."