New Procedure Offers Hope For Children With Rare Genetic Disorders Like AADC Deficiency
NEW YORK (CBSNewYork) - There's hope for thousands of children living with rare genetic disorders that can cause a lifetime of disability.
It's a remarkable new approach to gene therapy that actually reprograms brain cells with new DNA.
CBS2's Dr. Max Gomez shares how this procedure is changing the lives of these severely affected children.
As an infant, Jamell Stagg, Jr. wasn't hitting normal development milestones.
"At the three month mark, his pediatrician is the one actually who thought something was wrong," said Jamell's mother Shante.
Jamell was eventually diagnosed with a rare genetic disorder called AADC deficiency, which leads to a loss of dopamine in the central nervous system.
Dopamine fuels two important pathways in the brain: One for motor function, and another that regulates mood and emotion. Without it, children born with this disorder suffer severe physical and developmental disabilities, and require round-the-clock care.
"They sleep poorly, they have what are called oculogyric crises, which are akin to seizures. They have very poor motor control, very poor motor movements," said Dr. Brad Elder of Ohio State Wexner Medical Center.
But now researchers at the Ohio State Wexner Medical Center successfully performed a groundbreaking gene therapy surgery that offers hope to these children, and potentially many others with neurodegenerative diseases.
They infuse a benign virus programmed with specific DNA into targeted areas of the brain, delivered slowly as doctors monitor its progress through real-time MRI imaging.
"Really what you're doing is you're introducing to the cell, a plan, a different code," Elder said.
In the study, those painful, sleepless nights that plague kids with AADC deficiency disappear.
"This is the first thing we see that goes away completely, remarkably within a few weeks of the gene therapy. It never comes back," said Dr. Krystof Bankiewicz.
And in the months that followed, several patients were able to sit up, feed themselves, or even walk - unprecedented improvements among children with this disorder.
"Just to be able to see him actually pick up a toy or something, is going to be nothing but joy," Shante said.
This same method of genetic reprogramming could be used to treat other genetic disorders, as well as common neurodegenerative diseases, like Parkinson's and maybe even Alzheimer's disease.
