Gene Therapy Delivers Treatment Directly to Brain
2023-01-30
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1When Rylae-Ann Poulin was 1 year old, she did not crawl or make noises like other kids her age.
2A rare genetic disease prevented her from even lifting her head.
3Her parents took turns holding her all night to ease her breathing and help her sleep peacefully.
4But months later, doctors in Taiwan treated the young patient's brain directly, attacking the disease with genetic medicine.
5Now the 4-year-old is walking, running, swimming, reading and riding horses.
6Rylae-Ann lives with her family in Bangkok, Thailand.
7She was accepted into a medical trial for a new method of gene therapy.
8Experts say the treatment holds great promise for treating several brain diseases.
9The method was approved in Europe and the United Kingdom for a condition called AADC deficiency.
10The disorder damages communication systems among nervous system cells.
11American drug company PTC Therapeutics plans to seek U.S. approval for the treatment this year.
12The National Institutes of Health (NIH) says there are about 30 studies underway in the United States right now to test gene therapy to the brain.
13The studies target a number of diseases.
14Dr. Krystof Bankiewicz at Ohio State University leads one such study on AADC deficiency.
15Others test treatments for brain diseases like Alzheimer's, Parkinson's and Huntington's.
16Difficulties remain, especially with diseases caused by more than a single gene.
17But scientists say evidence is growing in support of gene therapy to the brain.
18"There's a lot of exciting times ahead of us," said Bankiewicz, a brain surgeon.
19"We're seeing some breakthroughs."
20The most amazing of those breakthroughs involve Rylae-Ann's disease.
21It is caused by changes in a gene needed for an enzyme that helps make neurotransmitters, the body's chemical messengers.
22The one-time treatment provides a working version of the gene.
23At around 3 months old, Rylae-Ann began having what her parents thought were seizures.
24Fluid sometimes got into her lungs after she ate, a condition that required hospital treatment.
25Doctors thought she might have epilepsy or cerebral palsy, more common brain diseases.
26Later, her parents found a doctor who correctly identified Rylae-Ann's condition.
27Her parents entered her into a gene therapy trial in Taiwan.
28The treatment requires doctors to operate directly on the brain.
29The doctors injected the genetic material using an extremely narrow tube.
30"It gets put into the brain cells and then the brain cells make the (neurotransmitter) dopamine," said Stuart Peltz, leader of PTC Therapeutics.
31Company officials said all patients in their trials showed movement and thinking improvements.
32Some of them, Peltz said, could stand and walk and continue getting better over time.
33Bankiewicz of Ohio State University also reported success in his NIH-financed study.
34He said all 40 or so patients involved saw big improvements.
35Scientists say there are difficulties to face before this treatment becomes common for more brain diseases.
36For example, the timing of treatment is an issue.
37Generally, earlier in life is better because diseases can cause more problems over the years.
38Also, more complex disorders like Alzheimer's are harder to treat with gene therapy.
39A more basic barrier is cost.
40The price of gene therapies, paid for mostly by insurers and governments, can be in the millions.
41The one-time PTC therapy costs more than $3 million in Europe, for example.
42But drugmakers say they want people to get the treatments they need.
43And researchers are hopeful they can clear the remaining scientific barriers to this method.
44"So I would say gene therapy can be leveraged for many sorts of brain diseases and disorders," said Ryan Gilbert.
45He is a biomedical engineer at New York's Rensselaer Polytechnic Institute.
46"In the future, you're going to see more technology doing these kinds of things," he added.
47I'm Dan Novak.
1When Rylae-Ann Poulin was 1 year old, she did not crawl or make noises like other kids her age. A rare genetic disease prevented her from even lifting her head. Her parents took turns holding her all night to ease her breathing and help her sleep peacefully. 2But months later, doctors in Taiwan treated the young patient's brain directly, attacking the disease with genetic medicine. Now the 4-year-old is walking, running, swimming, reading and riding horses. 3Rylae-Ann lives with her family in Bangkok, Thailand. She was accepted into a medical trial for a new method of gene therapy. Experts say the treatment holds great promise for treating several brain diseases. 4The method was approved in Europe and the United Kingdom for a condition called AADC deficiency. The disorder damages communication systems among nervous system cells. 5American drug company PTC Therapeutics plans to seek U.S. approval for the treatment this year. 6The National Institutes of Health (NIH) says there are about 30 studies underway in the United States right now to test gene therapy to the brain. The studies target a number of diseases. 7Dr. Krystof Bankiewicz at Ohio State University leads one such study on AADC deficiency. Others test treatments for brain diseases like Alzheimer's, Parkinson's and Huntington's. 8Difficulties remain, especially with diseases caused by more than a single gene. But scientists say evidence is growing in support of gene therapy to the brain. 9"There's a lot of exciting times ahead of us," said Bankiewicz, a brain surgeon. "We're seeing some breakthroughs." 10The most amazing of those breakthroughs involve Rylae-Ann's disease. It is caused by changes in a gene needed for an enzyme that helps make neurotransmitters, the body's chemical messengers. The one-time treatment provides a working version of the gene. 11At around 3 months old, Rylae-Ann began having what her parents thought were seizures. Fluid sometimes got into her lungs after she ate, a condition that required hospital treatment. Doctors thought she might have epilepsy or cerebral palsy, more common brain diseases. 12Later, her parents found a doctor who correctly identified Rylae-Ann's condition. Her parents entered her into a gene therapy trial in Taiwan. The treatment requires doctors to operate directly on the brain. The doctors injected the genetic material using an extremely narrow tube. 13"It gets put into the brain cells and then the brain cells make the (neurotransmitter) dopamine," said Stuart Peltz, leader of PTC Therapeutics. 14Company officials said all patients in their trials showed movement and thinking improvements. Some of them, Peltz said, could stand and walk and continue getting better over time. 15Bankiewicz of Ohio State University also reported success in his NIH-financed study. He said all 40 or so patients involved saw big improvements. 16Barriers to widespread use 17Scientists say there are difficulties to face before this treatment becomes common for more brain diseases. 18For example, the timing of treatment is an issue. Generally, earlier in life is better because diseases can cause more problems over the years. Also, more complex disorders like Alzheimer's are harder to treat with gene therapy. 19A more basic barrier is cost. The price of gene therapies, paid for mostly by insurers and governments, can be in the millions. The one-time PTC therapy costs more than $3 million in Europe, for example. 20But drugmakers say they want people to get the treatments they need. And researchers are hopeful they can clear the remaining scientific barriers to this method. 21"So I would say gene therapy can be leveraged for many sorts of brain diseases and disorders," said Ryan Gilbert. He is a biomedical engineer at New York's Rensselaer Polytechnic Institute. "In the future, you're going to see more technology doing these kinds of things," he added. 22I'm Dan Novak. 23Dan Novak adapted this story for VOA Learning English based on reporting by The Associated Press. 24_______________________________________________________________ 25Words in This Story 26breakthrough - n. a sudden increase in knowledge, understanding, etc. 27dopamine - n. a compound present in the body as a neurotransmitter 28insurer - n. a company that provides insurance 29leverage - v. influence or power used to achieve a desired result