Maddie Niles stumbled on an existing drug that changed her life forever. How many other rare disease treatments are sitting unused on the shelf at the local pharmacy?
Seventeen-year-old Maddie Niles has a rare metabolic disease with no name, no known cause, and — at least for most of her life — no clear treatment plan. By the time she was in second grade, she was dependent on a wheelchair and a central line that fed her fluids and nutrients.
One of Maddie's doctors did a routine switch of medicines for a recurring symptom: kidney stones. Within a week or two of starting that medication, Maddie started to feel better than she had in a while. She had more energy and could concentrate for longer periods of time. "Imagine a field of medicine where, every Friday, you've got 10 new diseases to learn about," says Summar, whose lab works on devices and treatments for patients with genetic and biochemical diseases.
Government incentives have helped , but basic logistics make it hard to develop drugs for a population that may be very small and spread all around the world. Even if you can get traction in research and development, the wait can be 10 to 15 years — and it can cost $1 billion or more.David Fajgenbaum, MD, an assistant professor of medicine at the University of Pennsylvania, believes there's an easier answer.
As with Maddie, the drug had a profound effect. Since then — about 9 years ago — Fajgenbaum has been in near perfect health and the drug has saved the lives of others with the disease. Recently, through a partnership with Penn State University, Every Cure used its powerful software to look for connections between each of 3,000 FDA-approved drugs and approximately 12,000 diseases. The result was 36,000,000 ranked scores. The top hits look very promising, Fajgenbaum says, and the team is going through them to identify promising opportunities for further study.
How many other existing drugs could have similarly broad uses? Like Fajgenbaum at Every Cure, Colvis and her team at NCATS want to find out. Her team is building a tool called the Biomedical Data Translator, that, like Every Cure, aims to forge connections among vast pieces of information in the hope of finding viable treatments.work. And it won't be able to predict all the potential dangers. That's where further research is key. Still, she sees incredible promise.
Still, Niles is wary of easy answers."What worked for Maddie isn't a 'wonder drug' that will fix everyone. It's a missing piece in her puzzle. I've seen the desperation in families with rare disease. I've seen people make the poor choice to just try treatments themselves — sometimes causing serious setbacks."
Hiring domestic help for these kinds of tasks is mostly not covered by insurance, leaving the bulk of this essential work to the parents, says Annie Kennedy, policy chief at the EveryLife Foundation for Rare Diseases.Before Maddie's birth, Cheryl Niles had worked as a computer engineer and was expecting to return to work. But over time, it became clear that juggling Maddie's multiple medical needs, including appointments, hospitalizations, and homeschooling, made that impossible.
And it was just the beginning. When the Nileses couldn't find enough qualified nurses to cover all the hours needed to keep up Maddie's complex medication program during her school day, the insurance company responded by cutting coverage. For several weeks, Cheryl Niles filled that role with her know-how from performing those duties at home.
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