Doctors Optimistic About Gene Therapy Treatment For Brain Disorders

An American family living in Thailand says a new method of delivering gene therapy to the brain has saved their daughter's life.

Rylae-Ann Poulin’s parents knew something was wrong when their daughter was just a few months old. “I noticed some signs that she wasn't making any milestones. I would look at some videos of other babies because I'm a new parent. And just seeing her so different from the other babies. She wasn't rolling, she wasn't moving much,” says her mother, Judy Wei.

The Poulin family took countless trips to the emergency room in Thailand where doctors first thought she had epilepsy or cerebral palsy. “My wife is bawling her eyes out. My daughter is in pain – and there’s nothing I can do,” says Rylae-Ann’s father, Richard Poulin III.

At one year old, Rylae-Ann was diagnosed with AADC deficiency. It's an extremely rare disorder that interferes with the way cells in the nervous system communicate. “I remember googling and it says no cure available. My heart just shattered, and I thought it was over," Wei said.

But three months later, a gene therapy clinical trial in Taiwan would change everything. In a minimally invasive surgery, doctors delivered genetic material directly to Rylae-Ann’s brain, curing the condition. "Just by having the one procedure, you're able to correct the genetic defect so that the patient has restorative life for the rest of their life,” says Professor Ryan Gilbert with Rensselaer Polytechnic Institute in New York.

The treatment transformed Rylae-Ann’s world. She’s now running, jumping, and enjoying life as a healthy and active four-year old. Her father says, "She went from being basically paraplegic, can't move, can't thrive to interacting with the world." Her mother adds, "It's a new life for her."

Rylae-Ann’s new life could give hope to others, as experts believe brain-delivered gene therapy also holds promise for treating other diseases.

A U.S. drug company hopes to get FDA approval for the treatment this year. According to the National Institutes of Health, about 30 studies are underway here in the U.S. to test gene therapy to the brain, targeting diseases including Alzheimer’s, Parkinson's, and Huntington's.