How gene therapy changed everything for child born with AADC deficiency

Soon after Rian was born, her parents noticed she wasn’t developing at the same pace that her older sibling had. She didn’t move or bat at toys. Her hands remained in tiny fists long after babies typically become more dexterous.

After countless tests — MRIs, blood samples, biopsies and more — and screening for well over a thousand diseases, she was diagnosed at 11 months old with aromatic L-amino acid decarboxylase (AADC) deficiency.

Meanwhile, Krystof Bankiewicz, MD, PhD, and Russell Lonser, MD, had been helping developing a gene therapy for AADC. Drs. Bankiewicz and Lonser invented a surgical technique to deliver the gene therapy to the right spot in the brain, so that the body could begin properly producing dopamine and serotonin.

At 5, Rian was able to receive this surgery, and her mother says she was reborn. She was soon able to hold up her head. Reach for toys. Sit. Roll. Walk.

Dr. Bankiewicz, director of the Brain Health and Performance Center at The Ohio State Unviersity Wexner Medical Center and a professor at The Ohio State University College of Medicine, and Dr. Lonser, a neurosurgeon at the Ohio State Wexner Medical Center and chair of the Department of Neurosurgery at the Ohio State College of Medicine, continue to treat children with AADC through their work at the Neurological Institute at Ohio State.

Their clinical trials underway in gene therapy research aim to develop similar treatments for people with muscle movement and brain disorders such as Parkinson’s, Alzheimer’s and Huntington’s diseases.

See Rian's progress in the video above.