Parents of young twins with Niemann-Pick Disease Type C, a rare and fatal genetic disease, are crusading to get a treatment for the disease approved by the FDA.
Niemann-Pick Type C (NPC) is sometimes called childhood Alzheimer’s disease. Patients cannot metabolize cholesterol and other lipids, resulting in too much cholesterol and lipids in the liver, spleen, and brain. Symptoms include progressive dementia, epilepsy, uncoordinated limb movements, slurred speech, and tremors. Most children die before they reach age 20. Only around 500 people worldwide are estimated to have the disease.
Hugh and Chris Hempel found that researchers were using cyclodextrin to treat NPC in mice; they then filed applications with the FDA to get permission to administer the drug to their daughters. Used on the girls since 2009, cyclodextrin has slowed the progression of the disease. Currently, the Hempels are busy sharing their story with national agencies and pharmaceutical companies in order to get the drug further tested, approved, and manufactured. Their biotech company, Solution Therapeutics, is seeking funding to start clinical trials of cyclodextrin.