Enhancing Neurosurgery Care with Innovation
A modified surgical approach developed at Cincinnati Children’s let Sriansh Ojha receive gene therapy that drastically changed his life.
In 2022, 16-month-old Sriansh became the youngest child in the world to undergo the one-time procedure. The treatment delivers a missing gene deep into the brain using a viral vector. New Jersey-based PTC Therapeutics Inc. aided in developing the therapy and testing it for Food and Drug Administration approval in children.
In his first year, Sriansh struggled to eat and could not lift his head or control his eye movements. Doctors did not expect him to walk. He had AADC (amino acid decarboxylase) deficiency, a rare genetic condition.
Today, Sriansh is an active 3-year-old who runs and plays with his sister. He came to Cincinnati Children’s after his mother, Bhawana Dhakal, and father, Tirtha Raj Ojha, of Lexington, KY, researched the medical center’s expertise with rare neurological disorders.
“Gene therapy is a blessing,” Bhawana says. “You can see my child, before and after, and see that it works. He has a new life.”
Clinical Trial Leads to FDA Approval
Donald Gilbert, MD, MS, a Division of Neurology movement disorder expert, enrolled Sriansh in a clinical trial for AADC deficiency gene therapy.
AADC deficiency is severely disabling. People with the condition face a lifetime of 24/7 care. The inherited disorder disrupts how signals pass among nerve cells in the brain and elsewhere. Mutations in the DDC gene produce a damaged version of the AADC enzyme, which is needed to make dopamine and serotonin. Without adequate amounts of these neurotransmitters, the brain, spinal cord and peripheral nerves cannot properly function.
Originally developed in Taiwan, the approach attaches a healthy DDC gene to a modified virus. The surgeon injects more than 1 billion engineered viral vectors into the putamen—a small brain structure vital for motor control, speech articulation and cognitive function.
The U.S. Food and Drug Administration approved the treatment in November 2024. Sold under the brand name KEBILIDI™, this is the first U.S.-approved gene therapy directly administered to the brain. By the end of 2024, 30 children worldwide had received treatment.
