Photo: RYAN M. KELLY/AFP/Getty Images
When Rylae-Ann Poulin was one year old, she didn’t crawl or babble like other children her age. A rare genetic disorder prevented her from even raising her head.
Months later, doctors applied gene therapy directly to his brain.
Now the 4-year-old girl walks, runs, swims, reads, and rides a horse. “He just does so many amazing things that doctors once said were impossible,” said his mother, Judy Wei.
Rylae-Ann, who lives with her family in Bangkok, was one of the first to benefit from a new way of applying gene therapy — targeting diseases within the brain — that experts believe holds great promise for treating a host of disorders. cerebral.
At 1 yr, Rylae-Ann Poulin didn’t crawl or babble like other kids her age. A rare genetic disorder kept her from even lifting her head. #OSUWexMed’s Dr. Krystof Bankiewicz talks with the Associated Press about promising gene therapy. https://t.co/9W1rXJmxjX pic.twitter.com/0DepBVrjb8
— The Neurological Institute at Ohio State (@OSUNeuroInst) January 25, 2023
A case that breaks ground
His treatment recently became the first gene therapy applied directly to the brain after its approval in Europe and Great Britain for L-aromatic amino acid decarboxylase deficiency (AADC deficiency), a disorder that interferes with the how cells in the nervous system communicate New Jersey-based drugmaker PTC Therapeutics plans to seek approval from the US government this year.
Meanwhile, about 30 studies are underway in the United States testing gene therapies delivered directly to the brain for various disorders, according to the National Institutes of Health (NIH). One, led by Dr. Krystof Bankiewicz of The Ohio State University, also focuses on AADC deficiency. Others are testing treatments for disorders like Alzheimer’s, Parkinson’s, and Huntington’s disease.
A promising treatment
Challenges remain, especially with diseases caused by more than a single gene, but the scientists say the evidence supporting this approach is growing, opening a new frontier in the fight against disorders affecting our most complex and mysterious organ.
“There are a lot of exciting times ahead,” said Bankiewicz, a neurosurgeon. “We are seeing some achievements.”
The most dramatic of those achievements involves Rylae-Ann disease, which is caused by mutations in a gene needed for an enzyme that helps make neurotransmitters, such as dopamine and serotonin, the body’s chemical messengers. The treatment, which is given just once, delivers a working version of the gene.
Rylae-Ann received the treatment at 18 months of age on November 13, 2019, a date her parents called her “rebirth day.””. Doctors applied it during minimally invasive surgery, with a thin tube through a hole in the skull. A harmless virus carried a working version of the gene inside.
“It is put into the brain cells and then the brain cells produce the (neurotransmitter) dopamine”, explains Stuart Peltz, CEO of PTC Therapeutics.
Obvious improvements and other obstacles
Company executives maintain that all patients in their clinical trials showed motor and cognitive improvements. Some of them, Peltz added, were eventually able to stand up and walk, continuing to improve over time.
Bankiewicz said the 40 or so patients in his team’s NIH-funded study also saw significant improvements. His surgical approach is more complicated and delivers the treatment to a different part of the brain. It targets relevant circuits in the brain, Bankiewicz explains, like planting seeds that cause ivy to sprout and spread.
The scientists say there are still challenges to overcome before this approach is extended to the most common brain diseases.
For example, the timing of treatment is an issue. In general, earlier in life is better, because diseases can cause a cascade of problems over the years. In addition, disorders with more complex causes—such as Alzheimer’s disease—are more difficult to treat with gene therapy.
One more hurdle is cost. The price of gene therapies, borne mainly by insurers and governments, can run into the millions of dollars. PTC Therapeutics’ one-time therapy, called Upstaza, costs more than $3 million in Europe, for example.
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