$ 14.6 million NIH scholarship to accelerate gene therapy research for rare diseases

COLUMBUS, Ohio – A $ 14.6 million award from the National Institute of Neurological Disorders and Stroke will accelerate research by Wexner Medical Center and Ohio State University College of Medicine to evaluate further the safety and effectiveness of gene therapy to treat a rare genetic condition called AADC Deficiency, which causes severe physical and developmental disabilities in children.

This research will build on previous work at Ohio State and the University of California at San Francisco using the targeted delivery of gene therapy to the midbrain to treat a fatal neurodevelopmental disorder in children with impaired development. in L-amino acid decarboxylase (AADC) which is characterized by a deficient synthesis of dopamine and serotonin.

“This major federal award really defines science with impact,” said Dr. Carol R. Bradford, Dean of The Ohio State College of Medicine. “The exploratory clinical trial will pave the way for the provision of this disease-modifying gene therapy for AADC deficiency and future gene therapies for other neurological disorders.”

Only about 135 children worldwide are known to have AADC deficiency. These children lack the enzyme that produces dopamine in the central nervous system, which feeds the brain pathways responsible for motor function and emotions.

“Without this enzyme, children lack muscle control and are usually unable to speak, eat or even lift their heads. They also suffer from seizures called oculogyric seizures which can last for hours, ”said lead researcher Dr. Krystof Bankiewicz, professor of neurological surgery at the Ohio State College of Medicine who runs the Bankiewicz Lab. “The delivery of a functional copy of the AADC gene would significantly reduce the suffering of affected patients and pave the way for the registration of other gene therapies for neurological diseases.”

Eight children with AADC deficiency were treated in the initial NIH-funded trial in the United States and 15 more children in a compassionate use program approved by the ethics committee. in Poland, Bankiewicz said.

“In our previous study, the oculogyric seizures stopped a few weeks after surgery and the patients’ sleep, mood and irritability improved. Most of the study participants gained head control and muscle tone, developed targeted movements, and some were able to sit up and start walking without support, regardless of their age, ”Bankiewicz said, who is also a researcher at the Ohio State Neurological Institute.

This new research will be a multi-center study with patients who will be treated at Ohio State University and the University of California at San Francisco.

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Media Contact: Eileen Scahill, Wexner Medical Center Media Relations, [email protected]

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