Lindsey Shapiro, PhD, science writer —

Treatment with Upstaza (eladocagene exuparvovec) is estimated to prolong survival and lead to life quality gains for aromatic l-amino acid decarboxylase (AADC) deficiency patients relative to standard supportive care. These are the findings of a recent study that used existing clinical data to model possible long-term outcome trajectories…

The U.S. Food and Drug Administration (FDA) has launched a pilot program, dubbed START, to accelerate the development of therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Called, in full, the Support for clinical Trials Advancing Rare disease Therapeutics Pilot Program, the START initiative will…

About three-quarters of children and adults with aromatic l-amino acid decarboxylase (AADC) deficiency on standard care fail to meet any key motor milestones, according to a patient registry analysis. People with the condition exhibited a wide range of symptoms that affected several bodily systems, the most common being developmental…

Most aromatic l-amino acid decarboxylase (AADC) deficiency patients treated at a center in Taiwan share a common mutation in the DDC gene and experience a severe symptom burden, a new study shows. However, pediatric patients who received Upstaza (eladocagene exuparvovec) — a gene therapy for AADC deficiency now approved…

Researchers have gained new insights into the structure of the aromatic amino acid decarboxylase (AADC) enzyme — which is faulty or absent in people with AADC deficiency — that could help them interpret and predict the consequences of different disease-causing mutations. Regions of the DDC gene code for parts of…

GenScript ProBio and Comprehensive Cell Solutions (CCS) are partnering to accelerate the development of new cell and gene therapies, with the goal of making these treatments affordable and quickly accessible to patients. Such therapies could ultimately benefit people living with rare disorders such as aromatic l-amino decarboxylase…

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…