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Children with Rare Genetic Disease Inspire Parents to Find Cure

A couple whose daughters suffered from a rare disease found a surprising new use for a common food additive.

ByConor GearinNOVA NextNOVA Next
Addi and CassiUSE
The parents of Addi and Cassi Hempel were inspired to seek out a cure.

The same chemical that keeps your salad dressing from separating could also destroy plaques in your blood vessels.

A team of researchers reported that cyclodextrin, an ingredient in low-fat versions of salad dressings, mayonnaise, and other foods, shows promise in dissolving the cholesterol crystals that form in patients with cardiovascular disease.

The idea to experiment with cyclodextrin to treat cardiovascular disease came from an unlikely source—the parents of two girls with a rare condition. Chris and Hugh Hempel of Reno, Nevada, have twin daughters who were diagnosed with a genetic disease called Niemann-Pick Type C (NPC) in 2007. Also called “childhood Alzheimer’s,” the disease causes cholesterol to build up in the child’s developing brain and other organs.

Looking for a way to help their daughters, Addi and Cassi, the Hempels found scientific papers posing the idea that cyclodextrin could help treat NPC. The chemical is basically a ring of sugar molecules that can carry another molecules inside the ring. Oily molecules like fat and cholesterol are especially drawn to the center of this ring because it repels water. This helps it prevent oil from separating in certain foods—and maybe also ferry cholesterol molecules away from places in the body where they shouldn’t be.

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Unfortunately for the Hempels, cyclodextrin was still years away from clinical trials to treat NPC, so the family decided to try a home remedy they knew was safe. But when that failed to cure the twins, they pushed for doctors to try a stronger treatment. Here’s Beth Mole, writing for Ars Technica:

They found cyclodextrin and initially tried using it in oral doses, which is known to be safe. However, the chemical couldn’t effectively reach the brain that way. The couple made headlines with their tireless efforts to get drug companies, the FDA, and doctors to let them try out intravenous treatments of cyclodextrin for their twins—and they won. Regular treatments gradually improved—although didn’t cure—the twins’ conditions. Cyclodextrin is now in clinical trials to treat other kids with NPC.

Meanwhile, Eicke Latz of the University of Bonn in Germany had new insight into how clots form in patients with atherosclerosis, a cardiovascular disease. When cholesterol molecules start to form a crystal on an artery wall, the body’s own inflammatory response only makes things worse—layers of immune cells attach to the crystal, creating a clot.

Since cyclodextrin seemed to help remove cholesterol in their daughters, Chris Hempel suggested to Latz that it might help break down atherosclerosis clots, too. Latz and his colleagues experimented with the chemical in mice that were fed a high-cholesterol diet. They did the same with diseased human artery tissue in culture dishes. In both cases, cyclodextrin was able to suck up the cholesterol molecules and dissolve clots.

In honor of her contribution to the project, Chris Hempel is listed as one of the 25 authors of the new paper in the journal Science Translational Medicine. The chemical now needs clinical trials with atherosclerosis patients to confirm its abilities—but the Hempels have set the wheels in motion.

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Photo credit: Addi and Cassi Fund