From the Keck Graduate Institute
Addi and Cassi Hempel, chronologically speaking, may be 6 years old. But the Reno, Nev., twins (shown at right) also suffer from a rare, fatal cholesterol disease that threatens to ravage their brains and neurological systems so they decay into an Alzheimer's-like dementia most commonly seen in the aged. With the assist of a noteworthy 'rare drugs' workshop conducted annually in Claremont, however, the young girls and 500 or so others worldwide who suffer from Niemann Pick Type C disease may see the benefits of new treatment with a sugar compound called cyclodextrin. The compound, which has shown promise in pulling harmful cholersterol into its core and, thus, ridding the body of it, is used now in cholesterol-free butter and salad dressings as well as in Fabreze air freshner. But the twins' mom, Chris, after learning of its potential use in combating her daughters' progressive disease, has won permission from federal regulators for a compassionate, investigative use of cyclodextrin. And now, with the assist of the workshop, she has won approval of an 'orphan drug' designation application she filed in February, a key step for the feds eventually to bless pharmaceuticals aimed at caring for rare diseases. It's still a long road ahead, particularly in getting through clinical testing of the drug and potentially seeing it go to market. But cyclodextrin, for which there still are issues in getting the substance into more direct use in afflicted brains, has helped the twins with swallowing and stability on their feet.
Claremont workshop helps advance OK for drug to combat Niemann Pick Type C disease
Click here to learn more about Addi, Cassi and fight against rare illness
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