Marisa Wexler, MS,  senior science writer—

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…

The investigational gene therapy PTC-AADC improved motor function in children with aromatic l-amino acid decarboxylase (AADC) deficiency in several clinical studies, new data show. These findings were presented at this year’s American Academy of Neurology annual meeting by Mark Pykett, PhD, the chief scientific officer of PTC…

Researchers have developed a patient-derived cell model of aromatic l-amino acid decarboxylase (AADC) deficiency that could provide important insights into the biological underpinnings of the disease, as well as serve as a platform to test potential treatments. The nerve cell model was described in the journal Brain,…

A new online resource, called AADC Insights, aims to make it easier for healthcare professionals to diagnose and care for people with aromatic l-amino acid decarboxylase (AADC) deficiency. AADC deficiency is an extremely rare condition caused by mutations in the DDC gene, resulting in a lack of a…

The science behind viral gene therapy — which may hold a potential cure in a single treatment for genetic diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency — was highlighted in a recent review. The study, “Current Clinical Applications of In Vivo Gene Therapy with AAVs,” was…