Gene Therapy Improves Neurological Disease, Population Health Management

A study led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine shows that a new method of gene therapy is providing relief for children born with AADC deficiency. Additionally, the study offers treatment insight into population health management for those living with incurable genetic and neurodegenerative diseases.

According to the study, aromatic L-amino acid decarboxylase (AADC) deficiency occurs when individuals have an insufficient synthesis of dopamine and serotonin. Dopamine fuels the pathways in the brain responsible for motor function and emotions. Those that have deficient amounts will face severe physical and developmental disabilities.

There are about 135 known children worldwide missing the enzyme that produces dopamine in the central nervous system. Without the enzyme, children lack muscle control, and struggle to speak, feed themselves or hold their heads up. They can also suffer from seizure-like episodes called oculogyric crises that can potentially last for hours.

"Remarkably, these episodes are the first symptom to disappear after gene therapy surgery, and they never return," study co-author Dr. Krystof Bankiewicz, professor of neurological surgery at Ohio State College of Medicine said in a press release.

"In the months that follow, many patients experience life-changing improvements. Not only do they begin laughing and have improved mood, but many are able to begin speaking and even walking. They are making up for the time they lost during their abnormal development," Bankiewicz continued.

Seven children ages 4 to 9 taking part in the directed gene therapy were infused with the viral vector. The results showed a dramatic improvement of symptoms, motor function, and quality of life for the children.

According to Bankiewicz, this therapeutic modality shows promise in population health management and patient care for those with AADC deficiency and other similar disorders of the brain in the future.

During the gene surgery, physicians infused a benign virus programmed with specific DNA into targeted areas of the brain. The infusion was delivered slowly in order for surgeons to monitor exactly how it spread within the brain using MRI imaging in real-time.

“Really, what we're doing is introducing a different code to the cell," Dr. James "Brad" Elder, director of neurosurgical oncology at Ohio State Wexner Medical Center's Neurological Institute said in a press release. "And we're watching the whole thing happen live. So we continuously repeat the MRI and we can see the infusion blossom within the desired nucleus."

Researchers believe that this same method of gene therapy can be used to improve patient care in the future. This includes treating other genetic disorders and neurodegenerative diseases such as Parkinson’s and Alzheimer’s disease. Clinical trials are underway to test this method on others with debilitating and incurable neurological conditions.