Joana Carvalho, PhD, managing science editor —

Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker testing services — to help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency — available free of charge to people in more countries in Europe, Latin America, and the Middle…

Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, and collagen6A3 — that may be useful for assessing the severity of certain disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency. In addition to disease severity, these new biomarkers may be valuable…

Gene therapy with small RNA molecules may be a promising therapeutic strategy to correct RNA processing errors in aromatic l-amino acid decarboxylase (AADC) deficiency, a study says. The findings of the study, “Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene,” were published in Human…

Since its founding in 2013, the International Working Group on Neurotransmitter related Disorders (iNTD) has been building a network and patient registry aimed at promoting knowledge and awareness among clinicians on rare neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency. Over the past several years, the collaboration has expanded…

Gene therapy using a special type of virus vector to deliver the functional DDC gene is well-tolerated and might improve motor development in children with aromatic l-amino acid decarboxylase (AADC) deficiency in the future, a Phase 1/2 clinical trial shows. The findings of the study, “Efficacy and safety of AAV2…

Only 18 months after its initial licensing, Agilis Biotherapeutics‘ gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency has been deemed ready for submission to the U.S. Food and Drug Administration (FDA). Given its rare disease status, with roughly 120 cases of AADC deficiency described to date, this is a “remarkable…