Marisa Wexler, MS, senior science writer —

A trio of researchers in the U.K. has calculated health utilities for AADC deficiency, a quantitative measure of health value that will be useful for assessing the economic health value of future treatments. Results were published in the study “Eliciting health state utilities for Aromatic L-amino…

Anxiety and distractibility are among the most common problems reported by people living with AADC deficiency and other disorders that affect neurotransmitter production, according to a new study. Results also highlighted that children with these conditions often view their quality of life more favorably than their parents do. “A…

Two sisters with unusually mild cases of aromatic L-amino acid decarboxylase (AADC) deficiency were described in a recent report. “Our patients may show the most attenuated [mild] type of AADC deficiency. This indicates the importance of ruling out the possibility of AADC deficiency in patients who present with similar…

To bring attention to the rare disease aromatic L-amino acid decarboxylase deficiency, the second annual AADC Deficiency Awareness Day will be observed Friday, Oct. 22. The event is a collaboration among the AADC Family Network, PTC Therapeutics, MassBio (a Massachusetts-based healthcare nonprofit), and Boston Children’s Hospital. In…

An upcoming fundraising weekend in Los Angeles, dubbed the Ultra Rare Celebrity Jam, will feature a chance to hear music played by world-renown musicians, and to raise funds for the Columbus Children’s Foundation (CCF). The CCF, in Research Triangle Park, North Carolina, works to accelerate the development of…

Analyzing levels of certain organic acids in the urine can be a useful first step in diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency, a new report highlights. Using urine analyses for detecting the neurometabolic disorder would be less invasive than current tests, which require a spinal tap, the…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Children with aromatic l-amino acid decarboxylase (AADC) deficiency experience a wide range of symptoms and difficulties in day-to-day activities, which can have substantial affects on their quality of life, a study based on interviews with caregivers reported. This is the first published scientific study to explore the qualitative experience…

Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the AADC protein, but do not drastically alter the protein’s structure, according to a new analysis. The data were presented at the WebPro meeting this May in a poster, titled “Compound…

A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people with AADC deficiency for at least two years, research drawing on clinical trial data shows. Findings were in the study “Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic L-amino…