A gene therapy trial for children battling a rare muscle disease could be a medical breakthrough, and doctors at the Medical College of Wisconsin are part of it.
One of those doctors has a very personal connection to the work after he watched his childhood friend with the disease die at a young age.
"I didn't really think much about his disease as we were growing up but by the time I went to college you see the changes, the disease was getting more severe," said Dr. Michael Lawlor, a neuropathologist and scientist at the Medical College of Wisconsin.
Lawlor met his friend Peter Tucker when they were both still in elementary school. Tucker had a form of muscular dystrophy that kept him in a wheelchair.
As he got older, the disease progressed and he died when Lawlor was in medical school.
"I knew this was something I would always care about," said Lawlor.
He focused his medical training on this disease, and now Lawlor is part of a worldwide collaboration, testing a gene therapy that may one day stop the effects of certain types of muscular dystrophy.
This therapy could help families like the Whistons, who every day have to worry about whether their 6-year-old son William can even breathe.
"He's on a ventilator, he uses that pretty much all the time and takes that wherever he goes," said William's dad Daniel. "He’s in a power wheelchair. It’s mainly a physical condition that prohibits movement."
William has Myotubular Myopathy, a rare form of muscular dystrophy where his body doesn't produce a certain protein, so his muscles don't move as well.
Daniel says when his son was born, there were no treatment options, and now he feels Dr. Lawlor is on the precipice of finding one.
"That's what we hope for and that's part of why we do this, one day that might be a treatment option for him," said Daniel.
Lawlor says they have already seen success in a trial involving dogs with the same muscle disorder, where researchers reintroduced the missing proteins as a virus and saw the dogs get stronger.
"It was very wonderful to see dogs play and fetch at an age where they could have been going down from their disease," said Lawlor.
About a year ago, they began testing the therapy in human trials. Lawlor is working with two separate companies on two different forms of the disease to see if the therapy will help children.
And the mother of Lawlor's childhood friend is witnessing it all and called Dr. Lawlor her hero.
"The amazing thing to me was that our son would have a direct connection to possibly a cure," said Jano Tucker, Peter's mother. "I don’t think [Peter] would be at all surprised. He had that kind of wisdom."
Lawlor says he doesn't know if this will ever be a cure, he calls it a treatment option. But even that would be a breakthrough.
"The degree of disability many of these children have is extraordinary," he said. "If we can get them out of this sort of fragile state, that will be an extraordinary advance."
The human trials for this therapy could take about five years, and they are still enrolling children. Unfortunately, William Whiston is too old to take part in the trial, but his parents still hope the results will benefit him one day.
Doctors say children with William's condition have a 50 percent mortality rate in their first year of life.
