Addison and Cassidy Hempel are seven-year-old identical twins who are among only about 500 people in the world with an extremely rare but fatal neurological disease that gradually destroys the young mind and body. The US Food and Drug Administration (FDA) has not approved any therapies for this rare disease, known as Niemann-Pick disease type C1 (NPC). So under normal circumstances, Addi and Cassi would not live through adolescence. But that fate is not yet sealed because in 2010 they became the first children in the world to start receiving injections of an experimental drug called cyclodextrin.
In an effort to bring this treatment to other children with NPC, the US National Institutes of Health (NIH) announced on 23 January that scientists at its National Center for Advancing Translational Science (NCATS) will begin a phase 1 clinical trial to evaluate the safety and effectiveness of cyclodextrin in nine other NPC patients. Both NCATS and its clinical trial partner, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), are based in Bethesda, Maryland.
Charles Vite, a veterinary neurologist at the University of Pennsylvania in Philadelphia who has tested cyclodextrin in a feline model of NPC, says the the drug “shows clear improvements in the animal model” above and beyond other compounds scientists have tried. “It’s very exciting because this drug has the potential to be successful in children.”