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The investigational gene therapy PTC-AADC safely led to profound improvements in children with aromatic L-Amino acid decarboxylase (AADC) deficiency, which was sustained for up to 10 years, its developer, PTC Therapeutics, reported. Treated children developed unheard of cognitive and language skills, and gains in motor function, holding…
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The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…
A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.
Standing can be difficult for children with AADC. Columnist Richard E. Poulin III has tried several therapies with his daughter, Rylae-Ann.
Check out AADC News’ collection of Health Insights, where you can find a variety of information relevant for patients and caregivers.
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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