When people hear about a rare disease, they often assume they will never encounter it. The word “rare” suggests distance — something that happens somewhere else, to someone else. The truth is very different. In the U.S., about 1 in 10 people live with a rare disease. While exact numbers…
The U.S. Food and Drug Administration (FDA) has issued draft guidance outlining a framework that could help speed the development and approval of personalized treatments for ultra-rare diseases, such as Aromatic l-amino acid decarboxylase (AADC) deficiency. The framework, “Considerations for the Use of the Plausible Mechanism Framework to…
Discussion
I stood in front of a room full of middle school students on Feb. 27, the day before Rare Disease Day, and asked a simple question: “How many of you think you have ever met someone with a rare disease?” A few hands slowly went up. Most did not. Those…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
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