|Advocating for Cures
CHORI Clinical Scientist Wins FDA Approval for Experimental Treatment Protocol
CHORI clinical scientist Caroline Hastings, MD, first met two-year-old twins, Addi and Cassi Hempel, when it was clear that something was wrong but no one had yet diagnosed the problem. Bright and bubbly youngsters from birth, Addi and Cassi had begun to undergo a startling regression, from chattering away like any toddler to a complete loss of all vocabulary, as well as increasing problems with balance and other motor skills.
“They’d been seen by a number of specialists but no one had a clear sense of what was going on,” says Dr. Hastings. “They got sent to me because they had enlarged spleens, and as soon as I saw them I feared it was a metabolic storage disease, and knew we had to go looking for the rare disorders.”
Metabolic storage diseases are uncommon diseases that are caused by enzyme defects that keep that enzyme from functioning properly or that interfere with the movement of cell content. In Addi and Cassi's case, the disorder turned out to be Niemann Picks type C, or NPC.
"NPC is probably the rarest of the different types of the disorder, and it has no known treatment, in part b/c there isn't a completely clear understanding of what's happening," explains Dr. Hastings of the disease in which cholesterol can't be removed from the red blood cells. "Cholesterol is vital for life, but it's toxic if it isn't transported out of the cells."
The cholesterol build-up is particularly toxic to the nervous system in NPC, and the brain and central nervous system take the biggest hit. As children age, they start regressing instead of gaining.
"It's a devastating diagnosis because there are no proven treatments. Eventually children become so weak, they can't even swallow. They usually don't survive beyond age ten," says Dr. Hastings.While the diagnosis for the Hempel family was horrific, it also meant that what was harming the twins now had a name.
"What was most interesting was that they seemed to get better a few days after infusion and then they'd lose some of it," says Dr. Hastings. "We feel like the drug must get utilized right away, and kind of like an insulin pump, and that they might need more frequent infusions. The new protocol will allow us to do two infusions a week. We're now starting the phase of treatment where if it's going to work we should really see something."
In the mean time, however, Dr. Hasting's work as an advocate to navigate the FDA isn't over. She's now working with other families and physicians in other cities, states and countries where people who have children with NPC and want to do the same treatment.
"Eventually, we hope to make it more of a phase one study where we can enroll patients around the world and collect data on all of them. If the treatment is as successful as we hope, I'm pretty confident we'll have a drug to treat NPC," says Dr. Hastings.
Tuesday, May 17, 2011 8:19 AM