Two years after treatment with the gene therapy Kebilidi (eladocagene exuparvovec-tneq), Sriansh Ojha, a toddler with AADC deficiency, is walking and talking. Sriansh received Kebilidi in 2022 as part of the Phase 2 clinical trial (NCT04903288) that formed the basis of the U.S. Food and Drug Administration…
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Six years ago, on Nov. 13, 2019, our daughter Rylae-Ann received a second chance at life. Every year since, we’ve celebrated it as her “Reborn Day,” when we reflect and remember how far she’s come. This year’s celebration, however, was an extraordinary moment of personal and national significance. When Rylae-Ann…
The U.S. Food and Drug Administration (FDA) has approved PTC Therapeutics’ one-time gene therapy, now called Kebilidi (eladocagene exuparvovec-tneq) in the U.S., for children and adults with AADC deficiency across the full spectrum of disease severity. The decision makes Kebilidi, also approved under the brand name Upstaza…
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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