A generalized dopamine deficiency in aromatic L-acid decarboxylase (AADC) deficiency causes some neurons to be overly active, which may contribute to the motor dysfunction associated with the condition, researchers report. A gene therapy that restores brain dopamine levels seems to repair these abnormalities, their study shows. The study, “Electrical…
Patients with only one mutated copy of the DDC gene may present delayed or milder symptoms of AADC deficiency — including behavioral abnormalities as sole manifestations — that often lead to late diagnosis and further complications, a case report shows. The study, “When dysphoria is not a primary…
Antisense oligonucleotides (ASOs) — short nucleic acid molecules used to modulate protein production — can be used to correct abnormal dopa decarboxylase (DDC) processing in cells from patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a new study reports. The study, “Antisense oligonucleotides modulate dopa decarboxylase function in…
PTC Therapeutics plans to request approval for its GT-AADC gene therapy, developed for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency, in the United States. Supported by positive data from clinical studies, the company expects to submit a biologics license application (BLA) with the U.S. Food and Drug Administration…
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