A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes fixed upward due to spasms in the eye muscles — are all hallmark signs of aromatic l-amino acid decarboxylase (AADC) deficiency, with symptom onset occurring within 6 months of…
Symptoms that mimicked epilepsy led to the misdiagnosis of a Chinese infant girl with aromatic l-amino acid decarboxylase (AADC) deficiency, a case study reported. The researchers noted the case emphasizes the difficulty distinguishing between epileptic episodes, or seizures, and oculogyric crisis — a common symptom of AADC…
A novel gene mutation — which caused a case of aromatic l-amino acid decarboxylase (AADC) deficiency in a young boy — was found to directly impair a crucial step in the activity of the AADC enzyme without affecting its stability or production, a study reported. The researchers’ investigation helped…
The RTW Charitable Foundation will offer grants up to $150,000 per year to develop therapeutics for ultra-rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency. The foundation, which supports research that may not have strong commercial backing, provides capital, human resources, and logistical support to help scientists accelerate…
In ongoing and planned clinical trials, The Ohio State University College of Medicine is working to advance a directed gene therapy — one using direct infusion and not a viral vector — to help people with aromatic L-amino acid decarboxylase (AADC) deficiency and other neurological disorders that remain incompletely…
A new method has been developed that detects two biomarkers associated with aromatic l-amino acid decarboxylase (AADC) deficiency in dried blood spots at the same time, a study reveals. This method for simultaneously identifying these separate disease biomarkers was found to be accurate and precise — and can be…
The ongoing clinical evaluation of a new gene therapy to treat aromatic L-amino acid decarboxylase (AADC) deficiency has been boosted by a $14.6 million award from the National Institute of Neurological Disorders and Stroke (NINDS). Researchers at The Ohio State University Wexner Medical Center and College of Medicine…
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…
Using PTC-AADC gene therapy in children with aromatic l-amino acid decarboxylase (AADC) deficiency was found to be relatively safe and led to improvements in motor function, cognitive abilities, and breathing, a review of six clinical trials found. The therapy also showed benefits in feeding, mood, and sleep among…
An Italian panel of experts recommends using vitamin B6, dopamine agonists, and monoamine oxidase inhibitors (MAOIs) as first-line therapies for the treatment of people with rare aromatic l-amino acid decarboxylase (AADC) deficiency. Further, the expert panel called for an across-the-board, multidisciplinary approach for follow-up management of patients…
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