Rare Neurodevelopmental Disorder Reversed by Gene Therapy

Innovative method of gene therapy helps reverse rare genetic neurological deficiencies (AADC deficiency) in children as per a study at The Ohio State University Wexner Medical Center, published online in the journal Nature Communications. The aromatic L-amino acid decarboxylase (AADC) deficiency is a rare type of incurable, deadly neurodevelopmental disorder found in only 135 children worldwide that causes severe physical and developmental disabilities. It is characterized by deficient synthesis of dopamine and serotonin (responsible for motor function and emotions) in the central nervous system.

This worsens the activities like muscle control to the extent where children are unable to speak or even hold up their head and oculogyric crises (seizure-like episodes). The novel method aims to deliver targeted gene therapy to the midbrain for treating the condition.

"Remarkably, these episodes are the first symptom to disappear after gene therapy surgery, and they never return. 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," says study co-author Dr. Krystof Bankiewicz, professor of neurological surgery at Ohio State College of Medicine who leads the Bankiewicz Lab.

The Reprogrammed Therapy

The study directed the gene therapy infused with the viral vector in 7 children among the age group of 4 to 9 years. A dramatic improvement of symptoms, motor function, and quality of life was noted.

The infusion is delivered extremely slowly in the targeted brain region and is monitored for its pattern of spread within the brain tissues using real-time MRI imaging.

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"Really, what we're doing is introducing a different code to the cell. 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," says Dr. James "Brad" Elder, director of neurosurgical oncology at Ohio State Wexner Medical Center's Neurological Institute.

The method promises to transform the treatment of AADC deficiency and also serves as a layout for treating other genetic as well as common neurodegenerative diseases, such as Parkinson's and Alzheimer's disease.

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Source-Medindia