Even before the Purdue men’s basketball team lost its only NCAA tournament game this year, the team’s coach had already registered a significant win.
After a couple years of trying, Matt Painter won a $100,000 grant to help fund research into a rare disease that’s impacted one West Lafayette family particularly harshly.
A Chance Encounter
A few years ago, Purdue researcher David Thompson was working on a cancer drug using a compound called cyclodextrin. It’s a molecule that looks like a string of pearls wound into a doughnut shape. But at a conference, he had a fateful meeting…
“That’s actually, probably, the most amazing thing that’s ever happened to me scientifically,” Thompson says.
Thompson met another scientist who’d been trying to find treatments for a rare disease called Niemann-Pick Type C – so rare, in fact, that just one in 120,000 babies in America are born with it. That makes NPC almost 200 times rarer than Down Syndrome.
But unlike Down Syndrome, Thompson says it’s usually not obvious children have Niemann-Pick until several years into their life.
“The individuals that are afflicted start becoming clumsy, they have difficulties eating, swallowing," he says. "They start losing capacity in their liver, spleen and lung, because it’s affecting multiple organs.”
What happens is cholesterol starts building up in certain brain cells, eventually causing those cells to die and causing the child to lose organ function. That’s how Trent Smith has lost two of his kids, Riley and Braden. A third, Keaton, is currently fighting the disease.
Smith, his wife, and a daughter who isn’t afflicted with NPC started a charity a couple years ago to raise money for research. And for the last two years, Purdue men’s basketball coach Matt Painter has made the Smith Family Breakthru Fund his charity of choice when he participates in an online vote against other coaches raising awareness for other causes. This year, Painter won, so the Fund gets another $100,000. Trent Smith says it’s a significant increase in funding over what had been raised to date.
“Until this win, we were at about $300,000," Smith says. "Obviously this puts us over the $400,000 mark. In that timeframe, we’ve been able to fund research, mostly here at Purdue, to work on potential treatments for Niemann-Pick Type C Disease.”
Painter says it mattered to him that research on the disease was happening at Purdue, so hopefully the money would stay close to home.
“I’ve done some things with Coaches Vs. Cancer and any time something hits home and it’s closer and it’s in your community, it just means a little bit more,” Painter says.
Only Results Get Cash
But both Trent Smith and David Thompson are quick to point out that only those researchers who get results will get money. Smith says he and a medical adviser re-evaluate every year where their money will do the most good.
“Certainly we need to show promise," Smith says. "Every dollar that’s donated, I feel like we’re being entrusted with that money to do the right thing with is. So looking for some demonstrated progress is important to us.”
And the progress is important to Thompson and a trio of his graduate students who are doing the research. Christopher Collins has been with Thompson on the project for five years. He says he feels a personal connection to the work, especially since it’s not a high-profile disease, so large, well-funded pharmaceutical companies haven’t devoted many resources to solving it.
“The fact that they don’t have big pharmaceutical companies working on it, they have to kind of rely on smaller groups because of the low awareness, the low funding environment, all the way across the board. It makes what we’re doing that much more important,” Collins says.
But there may soon be more companies joining the research. Thompson says his group is nearing the start of a trial designed to find how cyclodextrin can be administered more easily and in slammer doses, all while staying in the body longer.
“From that experiment, we will be selecting an agent that essentially would become the starting point for a small company called Jewel Laboratories that will try to advance that as a potential NPC therapeutic,” Thompson says.
Niemann-Pick Type C is classified as an “orphan disease” – one so rare that it’s confined to relatively few people or a small geographic region. Most orphans don’t have extended families. But Trent Smith says even as this orphan disease has taken the lives of two of his kids and threatens the life of a third, his family in West Lafayette is growing all the time.