Aromatic L-amino acid decarboxylase deficiency
MONDO:0012084Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Also known as: AADC deficiency, aromatic L-amino acid decarboxylase deficiency, aromatic L-amino-acid decarboxylase deficiency, Aadc deficiency, DDC deficiency, Dopa decarboxylase deficiency, aromatic amino acid decarboxylase deficiency
3 clinical trials for this condition and its sub-types, 3 tagged with Aromatic L-amino acid decarboxylase deficiency itself.
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Brain gene therapy delivery system tested in kids with rare disorder
Disease control OngoingThis study tests a special needle (SmartFlow cannula) designed to safely deliver a gene therapy drug (eladocagene exuparvovec) into the brains of 13 children with AADC deficiency, a rare genetic disorder that affects movement and development. The main goals are to check if the pr…
Phase 2 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Gene therapy injection shows promise for kids with rare movement disorder
Disease control OngoingThis trial tests a gene therapy called VGN-R09b for children with severe AADC deficiency, a rare genetic disorder that affects movement and brain function. The therapy is injected directly into the brain. The study aims to see if it is safe and helps children achieve motor milest…
Phase 2/3 • Sponsor: Shanghai Vitalgen BioPharma Co., Ltd. • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC