Lindsey Shapiro, PhD,  science writer—

A team of U.S. researchers developed an artificial intelligence or AI-based algorithm to help doctors decide which type of genetic testing is most appropriate for children suspected of having a rare pediatric disease. The scientists believe their algorithm, dubbed the Phen2Test, will help accelerate the diagnostic odyssey for children living…

Direct delivery of gene therapies into the central nervous system (CNS) — an approach used by Upstaza (eladocagene exuparvovec), a gene therapy now under review in the U.S. as a treatment for aromatic l-amino acid decarboxylase (AADC) deficiency — may have advantages over gene therapies given into the…

Researchers have uncovered the effects of gene mutations that are associated with mild or moderate forms of aromatic L-amino acid decarboxylase (AADC) deficiency. In general, DDC gene mutations linked to milder cases were associated with greater residual activity of the AADC enzyme than in severe cases. Because most known…

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…