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…
The investigational gene therapy PTC-AADC (eladocagene exuparvovec) provides lasting and meaningful improvements in motor and cognitive function in children with aromatic l-amino acid decarboxylase (AADC) deficiency, updated results from three clinical trials show. The greatest improvements were observed in the youngest of the 26 treated children — none of…
A new method has been developed that detects two biomarkers associated with aromatic l-amino acid decarboxylase (AADC) deficiency in dried blood spots at the same time, a study reveals. This method for simultaneously identifying these separate disease biomarkers was found to be accurate and precise — and can be…
Researchers have developed and validated new tools to help evaluate health-related quality of life, or HRQoL, in people with aromatic l-amino acid decarboxylase (AADC) deficiency. These tools can be used to assess the cost-effectiveness ratio of future treatments, according to the team. The study, “A Discrete…
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…
The ongoing clinical evaluation of a new gene therapy to treat aromatic L-amino acid decarboxylase (AADC) deficiency has been boosted by a $14.6 million award from the National Institute of Neurological Disorders and Stroke (NINDS). Researchers at The Ohio State University Wexner Medical Center and College of Medicine…
Delivering the investigational gene therapy PTC-AADC to a specific part of the brain, called the putamen, was found to significantly and effectively lessen motor and non-motor symptoms in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a review-like study highlights. “Before this treatment, the children with AADC deficiency…
Flying can be an ordeal for many people with disabilities who rely on wheelchairs to get from point A to point B. Sometimes disabled travelers get to their destination only to realize their wheelchair or scooter is broken or missing. In 2019, the year after airlines were required to release…
Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…
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…
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