Post by David Feder on Mar 29, 2006 10:03:39 GMT -5
www.columbusdispatch.com/health/health.php?story=dispatch/2006/03/29/20060329-A1-02.html
Boy, 8, is pioneer for gene therapy
Trial may help treat muscular dystrophy
Wednesday, March 29, 2006
Misti Crane
THE COLUMBUS DISPATCH
RENEE SAUER DISPATCH
Andrew Kilbarger get a kiss from his mom, Julie, at Children’s Hospital. The 8-year-old Lancaster boy has muscular dystrophy and is the first person to receive experimental gene therapy.
Sometimes the next frontier in medical science depends on an 8-year-old boy with a stuffed leopard clenched in his hand.
So it went Monday when Andrew Kilbarger checked into Children’s Hospital, followed by two cameramen, including one who coaxed him into walking into the hospital twice in sincere hope that Andrew would smile for the second take.
He didn’t.
He kept his head down, his chin firm and his leopard close, repeatedly squeezing its paw to make it roar.
Yesterday, after a series of interviews and taping for the Muscular Dystrophy Association, he became the first person to receive experimental gene therapy that aims to restore the muscles of boys suffering with a debilitating and incurable disease.
Dr. Jerry Mendell, a neurologist, injected three shots of the agent, called Biostrophin, into one of Andrew’s arms and three placebo shots into the other.
Inside Andrew’s muscles, a honeycomb-like system of tissue that supports the muscle cells is missing. Without dystrophin, the gene missing in boys with Duchenne muscular dystrophy, the muscle becomes Jell-O-like. Most are in wheelchairs by 12 and die by 20.
The therapy is designed to replace integral parts of the missing gene. In mice, hamsters and dogs, the results have been remarkable.
This study does not have the potential to reverse Andrew’s muscular dystrophy, although it could improve muscle function in the bicep that receives the Biostrophin.
Huddled over their laptops at their lunch table at Children’s Monday, Jude and Jade Samulski described the two decades of work leading up to Andrew’s injections.
Jude is Jade’s uncle and a virologist at the University of North Carolina at Chapel Hill. For 20 years, he’s been working on a mechanism to carry the missing gene into the body. The vessel — he calls it a shuttle — is a re-engineered virus, harmless and efficient at finding its way into tissue.
His partner in the effort, Xiao Xiao, a researcher at the University of Pittsburgh, figured out how to shrink the dystrophin gene to its essential elements so it would fit into the virus, which is big enough to carry about 40 percent of the gene.
Once combined, the miniaturized gene travels inside the shuttle to the muscle, ideally replacing what is missing.
Jade Samulski, who serves as director of program management, helped the duo come up with a name for their company: Asklepios Biopharmaceutical, after the Greek god of healing.
On their computer screens, the Samulskis showed video of rodents, before and after. A mouse, hunched and slow, shuffled around its cage. A month after treatment, it moved briskly and reached up the side of the cage, stretching its body.
In another video, a previously diseased hamster is shown post-injection running on a treadmill and keeping pace with a healthy hamster.
"This is like the pinnacle of all this research. It’s pretty exciting," Jude Samulski said Monday. The team has been working 12- to 15-hour days seven days a week for more than two years hoping to see Biostrophin tested in humans.
Andrew is one of six boys 8 to 12 years old who Mendell will inject in the next nine months.
Children’s is the only hospital working on the study, which is designed to prove to the Food and Drug Administration that the experimental gene therapy is safe.
The boys will be monitored to see whether there are any reactions, including redness and swelling. Six weeks after each boy is injected, Mendell will take samples of his muscles.
Researchers are hopeful it will lead to tests in which doctors inject the gene therapy into the bloodstream at higher doses, perhaps in the legs.
"Then, we could really improve the quality of life," said Mendell, who leads the neuromuscular research program and gene therapy center at the Columbus Children’s Research Institute.
Eventually, bloodstream injections would theoretically deliver the gene to all the muscles, including the heart, he said.
The research is supported by $1.6 million from the Muscular Dystrophy Association.
Since Andrew’s parents, Mike and Julie, learned he had the disease in 2001, they’ve raised $80,000 for the MDA.
For the Kilbargers, who live in Lancaster, the experiment is a chance to contribute more than money to further research that might improve the outlook for boys with the disease.
They understand it’s just the start of studies that could go on for years before a treatment could be approved.
"We don’t hit the moon our first trip. Somebody has to step up. Somebody has to be the first one," Mrs. Kilbarger said.
"Andrew’s only stipulation was that Mommy stay with him the whole time. That and a few Matchbox cars."
mcrane@dispatch.com
Boy, 8, is pioneer for gene therapy
Trial may help treat muscular dystrophy
Wednesday, March 29, 2006
Misti Crane
THE COLUMBUS DISPATCH
RENEE SAUER DISPATCH
Andrew Kilbarger get a kiss from his mom, Julie, at Children’s Hospital. The 8-year-old Lancaster boy has muscular dystrophy and is the first person to receive experimental gene therapy.
Sometimes the next frontier in medical science depends on an 8-year-old boy with a stuffed leopard clenched in his hand.
So it went Monday when Andrew Kilbarger checked into Children’s Hospital, followed by two cameramen, including one who coaxed him into walking into the hospital twice in sincere hope that Andrew would smile for the second take.
He didn’t.
He kept his head down, his chin firm and his leopard close, repeatedly squeezing its paw to make it roar.
Yesterday, after a series of interviews and taping for the Muscular Dystrophy Association, he became the first person to receive experimental gene therapy that aims to restore the muscles of boys suffering with a debilitating and incurable disease.
Dr. Jerry Mendell, a neurologist, injected three shots of the agent, called Biostrophin, into one of Andrew’s arms and three placebo shots into the other.
Inside Andrew’s muscles, a honeycomb-like system of tissue that supports the muscle cells is missing. Without dystrophin, the gene missing in boys with Duchenne muscular dystrophy, the muscle becomes Jell-O-like. Most are in wheelchairs by 12 and die by 20.
The therapy is designed to replace integral parts of the missing gene. In mice, hamsters and dogs, the results have been remarkable.
This study does not have the potential to reverse Andrew’s muscular dystrophy, although it could improve muscle function in the bicep that receives the Biostrophin.
Huddled over their laptops at their lunch table at Children’s Monday, Jude and Jade Samulski described the two decades of work leading up to Andrew’s injections.
Jude is Jade’s uncle and a virologist at the University of North Carolina at Chapel Hill. For 20 years, he’s been working on a mechanism to carry the missing gene into the body. The vessel — he calls it a shuttle — is a re-engineered virus, harmless and efficient at finding its way into tissue.
His partner in the effort, Xiao Xiao, a researcher at the University of Pittsburgh, figured out how to shrink the dystrophin gene to its essential elements so it would fit into the virus, which is big enough to carry about 40 percent of the gene.
Once combined, the miniaturized gene travels inside the shuttle to the muscle, ideally replacing what is missing.
Jade Samulski, who serves as director of program management, helped the duo come up with a name for their company: Asklepios Biopharmaceutical, after the Greek god of healing.
On their computer screens, the Samulskis showed video of rodents, before and after. A mouse, hunched and slow, shuffled around its cage. A month after treatment, it moved briskly and reached up the side of the cage, stretching its body.
In another video, a previously diseased hamster is shown post-injection running on a treadmill and keeping pace with a healthy hamster.
"This is like the pinnacle of all this research. It’s pretty exciting," Jude Samulski said Monday. The team has been working 12- to 15-hour days seven days a week for more than two years hoping to see Biostrophin tested in humans.
Andrew is one of six boys 8 to 12 years old who Mendell will inject in the next nine months.
Children’s is the only hospital working on the study, which is designed to prove to the Food and Drug Administration that the experimental gene therapy is safe.
The boys will be monitored to see whether there are any reactions, including redness and swelling. Six weeks after each boy is injected, Mendell will take samples of his muscles.
Researchers are hopeful it will lead to tests in which doctors inject the gene therapy into the bloodstream at higher doses, perhaps in the legs.
"Then, we could really improve the quality of life," said Mendell, who leads the neuromuscular research program and gene therapy center at the Columbus Children’s Research Institute.
Eventually, bloodstream injections would theoretically deliver the gene to all the muscles, including the heart, he said.
The research is supported by $1.6 million from the Muscular Dystrophy Association.
Since Andrew’s parents, Mike and Julie, learned he had the disease in 2001, they’ve raised $80,000 for the MDA.
For the Kilbargers, who live in Lancaster, the experiment is a chance to contribute more than money to further research that might improve the outlook for boys with the disease.
They understand it’s just the start of studies that could go on for years before a treatment could be approved.
"We don’t hit the moon our first trip. Somebody has to step up. Somebody has to be the first one," Mrs. Kilbarger said.
"Andrew’s only stipulation was that Mommy stay with him the whole time. That and a few Matchbox cars."
mcrane@dispatch.com