Marisa Wexler, MS,  senior science writer—

Note: This story was updated on July 21, 2022, to note PTC is planning to request FDA approval of Upstaza. The European Commission has approved the gene therapy Upstaza (eladocagene exuparvovec) to treat aromatic l-amino acid decarboxylase (AADC) deficiency in patients ages 18 months and older. The approval…

Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system, according to a new review paper that called it “a debilitating disease that significantly impacts quality of life for individuals and caregivers.” The review found that people with AADC deficiency…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Motor symptoms have a substantial negative impact on the life quality of people with AADC deficiency and their caregivers, a new study involving interviews with more than a dozen parents and other caregivers reports. This finding highlights a need for therapies that can ease motor dysfunction in AADC deficiency,…

A team led by scientists at PTC Therapeutics has calculated health utilities — quantitative values for assessing health — for aromatic l-amino acid decarboxylase (AADC) deficiency based on data from a survey conducted in France. The findings, in combination with earlier work done in the U.K., could be helpful…

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…