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…
The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…
The investigational gene therapy PTC-AADC safely led to profound improvements in children with aromatic L-Amino acid decarboxylase (AADC) deficiency, which was sustained for up to 10 years, its developer, PTC Therapeutics, reported. Treated children developed unheard of cognitive and language skills, and gains in motor function, holding…
A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.
A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…
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