![](https://www.rickilewis.com/rails/active_storage/representations/redirect/eyJfcmFpbHMiOnsibWVzc2FnZSI6IkJBaHBBd2RlQVE9PSIsImV4cCI6bnVsbCwicHVyIjoiYmxvYl9pZCJ9fQ==--0379b40c21c5f337dd000f144de74a192ae0611d/eyJfcmFpbHMiOnsibWVzc2FnZSI6IkJBaDdCem9MWm05eWJXRjBTU0lJYW5CbkJqb0dSVlE2RkhKbGMybDZaVjkwYjE5c2FXMXBkRnNIYVFMZ0FXa0M0QUU9IiwiZXhwIjpudWxsLCJwdXIiOiJ2YXJpYXRpb24ifX0=--d00c0b801be2eac628730b2b4ffb891cbdd69dfe/Alkaptonuria.jpg)
The European Medicines Agency has just recommended extending use of an existing drug, nitisinone (Orfadin), to treat alkaptonuria (AKU). AKU holds a special place in the history of genetics as the first "inborn error of metabolism" described. It affects one in 250,000 to one in a million people.
The route to impending approval took two decades, illustrating factors that make the quest to discover, develop, and deliver a treatment for a very rare disease so challenging. There's no "Operation Warp Speed" for the rare disease community. Sometimes there aren't even enough participants to carry out a clinical trial that is controlled, relying instead on comparisons to the natural history of a disease, or enrolling one patient at a time in an "N+1" study.
I last wrote about AKU in 2014, calling it "black pee disease." I'm happy to report now on the progress in Europe, but won't use that attention-grabbing descriptor, because it minimizes the severity.
A Peculiar Condition and an Astute Physician
To continue reading, go to my DNA Science blog at Public Library of Science.