Steve Bryson, PhD, science writer —

A group of international experts in aromatic L-amino acid decarboxylase (AADC) deficiency and similar neurologic conditions have developed guidelines for the safe application of gene therapy in AADC patients, and for needed outcome follow-up. The new recommendations come within a year of approvals in the European Union and the…

Note: This story has been updated May 25, 2023, to state that data from the two children in the report were part of the data package that supported Upstaza’s approval in the European Union and the U.K. The first two aromatic l-amino acid decarboxylase (AADC) deficiency patients older than…

The route of administration now used for the gene therapy Upstaza (eladocagene exuparvovec) — directly into the brain region, called the putamen, that’s affected by aromatic L-amino acid decarboxylase (AADC) deficiency — is better than other modes of delivery, an animal study showed. The other tested routes included…

PacBio‘s HiFi DNA sequencing technology will be used in a pilot project to detect new genetic variants associated with rare childhood diseases, such as AADC deficiency. Run by the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital, in Massachusetts, the project involves a detailed analysis…

Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported, the first study to identify and characterize previously unknown DDC variants. “Given that genetic testing is a core diagnostic test for AADC deficiency, a comprehensive catalogue of the genetic variants…

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…