Clinical trials of drugs to improve the lives of boys afflicted with Duchenne muscular dystrophy are making major strides, a leading Duchenne researcher said Saturday. But the U.S. Food and Drug Administration needs to allow the drugs to be available to the public sooner, he said.
"The longer the trials are going, the more positive it's becoming," Australian researcher Dr. Steve Wilton said of a drug called Exondys 51, the first-ever effective treatment for Duchenne. "What we're seeing is that in all the boys it's been making a big difference."
Wilton said there is much to be optimistic about in the progress of drugs that cause exon skipping, a form of gene therapy, but there also is frustration.
"In some aspects, the progress is breathtaking, and in others it's frustratingly slow," he said. "The longer we take to get drugs to the market, the more boys who are going to suffer and see their conditions deteriorate. This disease doesn't wait for anyone."
Wilton said that, while the research and clinical trials are encouraging, time is of the essence. The debilitating neuromuscular disorder characterized by a progressive weakening of the muscles slowly robs boys of movement, saps their strength and ultimately consigns them to a life span rarely beyond their early 20s.
"We have 20 different Exondys drugs ready to go," Wilton said. "We can treat a lot more of the Duchenne boys, but we have to get the approval for these first few drugs through first. Once that is done we are hoping the rest will come on line faster."
Buffalo-based Suneel's Light Foundation helped fund early test research begun by Wilton in 2008. The fund was started in 2002 by Dr. Neera Manning, an Amherst family practitioner whose son, Suneel, has Duchenne.
Wilton was in town Saturday for the foundation's annual "Night to Shine" charity event at Park Country Club in Williamsville.
"The majority of boys in the original trial are still walking," Wilton said. "One is over 17, and another will be 17 in two months time. On average, these boys should have stopped walking before the age of 12.
"So, this has kept them out of wheelchairs for five years," he said. "That is a huge benefit for them because that's when many of the problems start."
Wilton said Exondys 51 is the first exon skipping drug of its kind, allowing boys with a particular mutation of Duchenneto make dystrophin, a protein they are deficient in.
"I have seen examples of many boys in a wheelchair able to do things they couldn't do before the drug," Wilton said. "Their hands and arms and breathing are improved, and their posture is improved."
Now, two other drugs in clinical trials – Exondys 45 and Exondys 53 – are also showing promise for boys with other mutations of Duchenne, Wilton said.
Neera Manning said she's excited by the progress the drugs are making, but wants to see Exondys 45 and 53 get to market sooner, with others to follow.
"It's very important for me because we know exon skipping helps boys in all stages of the disease," she said.