Mila M. is an 8-year-old American girl with a rare and fatal genetic disorder: Batten disease, a genetic condition that leads to an accumulation of lipopigments in the cells of the brain and central nervous system. At high concentrations, lipopigments kill the cells, damaging motor function over time. The disease affects up to one in every 25,000 children in the United States. Almost all of those affected die during childhood and adolescence. But doctors hope this will not be the case for Mila. Led by Dr. Timothy Yu of Boston Children’s Hospital, Massachusetts, researchers in the USA have created a custom drug tailored specifically to her in less than a year—the development and approval of a new compound usually takes a decade. The medication is a molecule that adheres to the altered portion of Mila’s CLN7 gene, enabling the synthesis of functional proteins. Mila started receiving the compound, nicknamed milasen, in January 2018, and her condition improved: the frequency and duration of seizures decreased, while other symptoms stabilized (NEJM, October 13). The new drug will not reverse the disease, but it could prevent it from worsening. The compound is proof that it is possible to create personalized treatments for genetic diseases. There are questions about the viability of the approach, however, due to its cost and complexity.
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