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…
Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) deficiency identified disease-related changes in brain structure, which may help diagnose the disorder and related conditions, a study suggests. The study, “…
The development of new gene therapy to treat people with aromatic L-amino acid decarboxylase (AADC) deficiency has been boosted by an R21 grant awarded by the National Institutes of Health National Advisory Neurological Disorders and Stroke Council…
A simple urine test using widely available methods may help diagnose people with aromatic L-amino acid decarboxylase (AADC) deficiency, a study reports. The study, “Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a…
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