Last week, The New York Times ran this article about Duchenne. The story mentions the incredible breakthroughs that are currently taking place in the field, but it also highlights major problems that leave many families with crushed dreams. “For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach,” the headline reads. “Scientists are testing nearly two dozen treatments that might stop the disease. But enrollment in the trials is very restricted, and few children qualify.”
The article focuses on the heartbreak that families experience when ultra-narrow enrollment criteria keep them from participating in clinical trials. Most trials rely on outcome measures that only a small slice of the Duchenne population can complete, such as walk for six minutes, climb four stairs, or rise from the floor in a certain amount of time. On one end of the spectrum, children can be excluded because they’re either too young to follow the directions; on the other, older boys and young men may be too far progressed in the disease to execute the tasks. Charley, for example, hasn’t been able to climb stairs for several years.
Limiting clinical trial participation to only those patients who can execute these tasks is not only excruciating for families who don’t qualify; it’s also seriously problematic because it hinders research progress. With only a small sub-group of the Duchenne population eligible for most trials, recruiting and enrolling patients often takes a long time. What’s more, relying on tests with these limitations as the sole way to evaluate the benefits of an experimental treatment yields no information about how the drug affects the many patients at other stages of disease. Better clinical trial design, including improved outcome measures, will enable more boys to access trials. It will also enable all research to happen faster and address unmet needs across all patients.
Many people view this issue as a battle between scientific rigor and compassion, a tug-of-war between the head and the heart. The comments posted in response to the article are telling. Many readers assume that allowing broad participation in studies will compromise the integrity of the data. But that is a false dichotomy.
We believe that there does not have to be a choice between rigorous science and humane outcomes. Rather, rigorous science — undertaken with urgency and focus — is the only way we get to the humane outcomes. And this is where we apply our focus: identifying opportunities where smarter approaches to research and better research tools, rigorously developed and vetted, can help us move faster to get results we can be confident in — the real results patients need. That’s why we’re working on several initiatives to improve the way we determine whether a new drug is benefitting patients.
One tool we’re working on is a new at-home, video-based assessment system. It captures footage of kids, adolescents, adults — anyone with the disease — doing everyday tasks. It then helps identify changes in how patients complete those tasks over time as a means to evaluate whether the disease is progressing. Young kids are recorded climbing stairs, rising from the floor, and walking or running. Older patients are recorded lifting a fork, rolling over in bed, and sitting up. Trained physical therapists then evaluate the videos using a validated scoring scale. Click here to read more about this innovative tool.
Another project we’re supporting is the development of a hand-held medical device that measures muscle integrity through electrical signals. Electrical Impedance Myography or “EIM” is a quick and painless way to get quantifiable information about the health of someone’s muscles. The device design gives it unique potential to be used on people at any age, whether you’re two years old or 20. Click here to learn more about EIM.
We still have work to do on both of these measures. Our goal is to ensure that these tools are developed, optimized, and put into use (if warranted) as fast and as strategically as possible. At the same time, we’re also working on other problems that hinder research — for example, helping to ensure that the drugs being tested with these new outcome measures are truly the candidates worth taking to clinical trials. “Of Mice and Measures” is an effort we’ve launched to improve the preclinical models and protocols that are used to determine whether a drug is worthy of advancing to clinical testing. We’ll share more information about that effort and others in future posts.
Before we get back to the work at hand, we want to share a parting message: How far we have come since Charley was diagnosed with Duchenne is truly astounding: Fourteen years ago, the landscape was bleak. Today, it is bursting with potential. But close doesn’t cut it in our world. The “bright hope” The New York Times describes doesn’t do anyone any good if it stays just beyond reach. We are on the brink of breakthroughs — but we can’t stop now. Stick with us. Help us turn research promise into real-life results.