A Nevada couple’s search to find a cure for their twin daughters’ rare disease has lead to breakthroughs and a new study’s findings. Chris and Hugh Hempel’s twin daughters Cassi and Addi were diagnosed with Niemann Pick Type C (NPC) back in 2007—the twins were just three years old at the time. NPC is a fatal disease where the body is unable to metabolize cholesterol and other lipids within the cells. It is also rare with no known treatments.
Type C Niemann-Pick Disease has an estimated 500 cases diagnosed worldwide. It is believed, however, that the number of people affected by NPC is higher, but diagnostic difficulties do not allow an accurate assessment of the occurrence rate. NPC has been initially diagnosed as a learning disability, mild retardation, "clumsiness," and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified.
NPC is always fatal. The majority of children with NPC die before age 20 (many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with NPC to reach age 40.
The Hempels are not scientists and were told there was really nothing that could be done. Absolutely heartbreaking. But the Hempels decided to begin poring through scientific literature in the hope of finding something, anything, that might improve or cure their daughters’ conditions. The Hampels quickly began following the research being done with a cyclodextrin—compounds made up of sugar molecules.
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, in 2010, Latz and colleagues published a study in Nature showing that cholesterol crystals, which accumulate along arteries when there’s too much cholesterol in the blood stream, can trigger inflammation. The immune response then produces a snowball effect eventually leading to the development of plaques—layers of cholesterol crystals, immune cells, and calcified lesions in the artery wall. Upon reading the study, Chris Hempel contacted Latz and told him about their experience with cyclodextrin clearing cholesterol from cells. Perhaps the sweet chemical could also clear it from plaques.
Latz applied this to the research team’s next round of study on mice. Cyclodextrin was able to reduce and dissolve cholesterol crystals. The results of this study and findings have just been published, with Chris Hampel given an author credit:
Because cyclodextrin is already known to be safe in humans, this drug is now a potential candidate for testing in human patients for the treatment of atherosclerosis.
The breaking down of cholesterol plaques and preventing them from reforming in arteries can have huge ramifications for the rest of us who do not suffer from NPC:
Statins and cholesterol-lowering drugs are highly effective in helping prevent heart attacks and stroke, but don’t adequately treat everyone. The cyclodextrin study may help draw attention to cholesterol crystals as a potential target for treatment. The idea is that cholesterol can crystallize and accumulate in arteries, causing inflammation and triggering or contributing to disease. The research is still in its early days, and positive findings in animals don’t always translate to humans.
This is a powerful meeting of love and determination and science and hope.
CNN’s Sanjay Gupta did a big piece on the Hampels’ journey back in 2014.
You can visit the Addi & Cassi fund here.