The U.S. Food and Drug Administration (FDA) has issued draft guidance outlining a framework that could help speed the development and approval of personalized treatments for ultra-rare diseases, such as Aromatic l-amino acid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…
Access to care for people with rare diseases in the U.S. still varies significantly by state, with ongoing gaps in medical nutrition and insurance coverage that can directly affect whether patients receive timely and affordable treatment, according to the latest State Report Card from the National Organization for…
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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