Lindsey Shapiro, PhD, science writer —

A national research network in Canada is working to accelerate research and treatment advances for rare diseases that affect children, such as aromatic l-amino acid decarboxylase (AADC) deficiency. RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network aims to help streamline and support rare disease clinical research in order…

Genomics companies Ambry Genetics and PacBio are coming on board to help the GREGoR Consortium achieve its goal of identifying the specific genetic underpinnings of rare diseases. The aim of the collaboration is to use advanced genetic sequencing techniques to screen the entire genome, the complete set…

The use of real-time magnetic resonance imaging (MRI) during direct-to-brain delivery of gene therapy may help optimize the safety and effectiveness of such therapeutics for neurological diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. In a recent review study published in JAMA Surgery, researchers at the Ohio…

Researchers have proposed a set of factors for doctors to consider when deciding if a patient is a good fit to undergo gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. Suggested criteria include: genetically and biochemically confirmed disease, lack of achievement of motor milestones and/or persistent movement disorders,…

Advanced genetic sequencing enabled the identification of a mutation — deep within a non-protein-coding portion of the DDC gene — that likely contributed to severe aromatic l-amino acid decarboxylase (AADC) deficiency in Japanese siblings, first diagnosed with the rare disease more than a decade ago. At the time of…

A unusually mild case of aromatic l-amino acid decarboxylase (AADC) deficiency, one characterized by exercise-induced episodes of involuntary muscle contractions, was described in a recent report. Scientists suspect that this atypical presentation was responsible for a substantial delay in the boy’s AADC deficiency diagnosis, arrived at when he…

Treatment with Upstaza (eladocagene exuparvovec) is estimated to prolong survival and lead to life quality gains for aromatic l-amino acid decarboxylase (AADC) deficiency patients relative to standard supportive care. These are the findings of a recent study that used existing clinical data to model possible long-term outcome trajectories…

The U.S. Food and Drug Administration (FDA) has launched a pilot program, dubbed START, to accelerate the development of therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Called, in full, the Support for clinical Trials Advancing Rare disease Therapeutics Pilot Program, the START initiative will…

About three-quarters of children and adults with aromatic l-amino acid decarboxylase (AADC) deficiency on standard care fail to meet any key motor milestones, according to a patient registry analysis. People with the condition exhibited a wide range of symptoms that affected several bodily systems, the most common being developmental…

Most aromatic l-amino acid decarboxylase (AADC) deficiency patients treated at a center in Taiwan share a common mutation in the DDC gene and experience a severe symptom burden, a new study shows. However, pediatric patients who received Upstaza (eladocagene exuparvovec) — a gene therapy for AADC deficiency now approved…