Jeff Chamberlain first heard about muscular dystrophy as a kid watching the annual Jerry Lewis telethon on Labor Day weekend. That TV program has been raising awareness for 43 years about this genetic disorder that breaks down muscles, eventually crippling and killing young boys and men, usually by their 20s.
The disease really captured Chamberlain’s curiosity about 25 years ago, when in graduate school he started studying the basics of how muscles form. He’s now a professor of neurology at the University of Washington, and a leading researcher attempting to develop the first drugs that can go beyond treating the symptoms of muscular dystrophy, and actually affect the underlying genetic disorder. He’s also a scientific advisor to CureDuchenne, an advocacy group for patients with the most common form of the disease, Duchenne Muscular Dystrophy.
Biotech companies haven’t shown much interest in muscular dystrophy, although that’s changing as researchers gather understanding of the genetic underpinnings of the disease. One leading candidate in this new class of treatment is from Bothell, WA-based AVI Biopharma (NASDAQ: [[ticker:AVII]]). The AVI treatment is part of an emerging class of compounds known as antisense oligonucleotides. It’s designed to silence a specific stretch of RNA that can enable the body to produce a protein called dystrophin. The protein is essential for muscles to be able to rebuild themselves, and is lacking in patients with muscular dystrophy. The drug recently earned notice in The Lancet when it showed an ability to restore some production of dystrophin proteins in an early-stage clinical trial—although it didn’t fully restore the dystrophin.
If AVI can show in subsequent trials that its drug is safe, and can be delivered throughout the body, it would be a big step forward even if it’s modestly effective, Chamberlain says. About one in every 3,500 boys born worldwide have Duchenne Muscular Dystrophy.
Chamberlain spoke with me in depth about how the standard of care for Duchenne Muscular Dystrophy has evolved, which drugs show promise in development, which companies are leading the way, and what patients can realistically expect from treatments of the future. Here is an edited account of the interview:
Xconomy: How did you first get interested in Duchenne Muscular Dystrophy?
Jeff Chamberlain: In graduate school, I was more interested in developmental biology, in terms of how does a human body form from a single fertilized egg. I ended up in a laboratory that was studying muscle development, as in how does muscle form. I wasn’t focused on diseases, but became interested in muscle tissue, and as soon as you start working on muscle, you hear about the muscular dystrophies because it’s a common genetic disorder.
I grew up watching the Jerry Lewis telethon, every Labor Day, which the Muscular Dystrophy Association puts on. A lot of the funding for basic muscle research was coming through the Muscular Dystrophy Association. So you couldn’t help but want to learn more.
The focus of my project was the importance of genes in regulating muscle growth. So when I graduated and went off to do postdoctoral training, I was recruited by a lab that wanted to study the genes involved in muscular dystrophy.
X: What year was this?
JC: About 1985. This was before any of the genes were known that cause muscular dystrophy.
X: Was the thinking then that this was a single gene disorder?
JC: Yes, that was known even then. Because all the muscular dystrophies
