An international team of researchers have reported 121 new cases of aromatic L-amino acid decarboxylase (AADC) deficiency and identified 26 novel disease-associated mutations in the DDC gene. Among the nearly 350 reported cases of AADC deficiency globally — including the 121 new ones — the vast majority of DDC mutations…
England’s National Institute for Health and Care Excellence (NICE) has recommended that the one-time gene therapy Upstaza (eladocagene exuparvovec) be provided at low or no cost to patients, ages 18 months and older, with severe aromatic l-amino acid decarboxylase (AADC) deficiency. The favorable decision from NICE’s final…
Centogene and Premier Research are teaming up to promote patient identification and enrollment in rare disease clinical trials, with the ultimate goal to increase the chances the trials will succeed. The effort aims to accelerate treatment solutions for the 350 million rare disease patients around the world, including…
Three rounds of anesthesia — two in infancy and the latest at age 6 — were conducted safely and without incident in a boy with aromatic l-amino acid decarboxylase (AADC) deficiency, according to a recent case report. While the results highlight that anesthesia can be successfully administered to…
A European Medicines Agency committee is expected to provide an assessment of PTC-AADC (eladocagene exuparvovec) gene therapy for treating aromatic l-amino acid decarboxylase (AADC) deficiency this month, which will inform the final decision about whether the treatment will receive marketing approval in Europe. The therapy’s developer, PTC…
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