The U.S. Food and Drug Administration (FDA) has launched a pilot program, dubbed START, to accelerate the development of therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Called, in full, the Support for clinical Trials Advancing Rare disease Therapeutics Pilot Program, the START initiative will…
Global rare disease organizations emphasized the importance of universal health coverage (UHC) for people with rare diseases during a side event to a meeting of United Nations (UN) member states to accelerate progress toward the goal of univeral coverage by 2030. The event, titled “A Blueprint for Leaving…
About three-quarters of children and adults with aromatic l-amino acid decarboxylase (AADC) deficiency on standard care fail to meet any key motor milestones, according to a patient registry analysis. People with the condition exhibited a wide range of symptoms that affected several bodily systems, the most common being developmental…
The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.
Measuring 3-O-methyldopa (3-OMD) levels in the dried blood spots used in newborn screening programs could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency early in life, a study in Taiwan suggests. Results from 157,371 newborns showed that six of the eight babies found to have higher-than-normal 3-OMD levels carried…
People in East Asia have a higher frequency of variants in the DDC gene — the cause of aromatic l-amino acid decarboxylase (AADC) deficiency — than do those in any other ethnic groups across the world, a new study has found. Interestingly, while Koreans had the lowest carrier frequency among…
Most aromatic l-amino acid decarboxylase (AADC) deficiency patients treated at a center in Taiwan share a common mutation in the DDC gene and experience a severe symptom burden, a new study shows. However, pediatric patients who received Upstaza (eladocagene exuparvovec) — a gene therapy for AADC deficiency now approved…
Delaware has become the 27th state in the U.S. to establish a Rare Disease Advisory Council (RDAC) to empower and equip rare disease community members to engage state leaders in issues important to patients and their families. This latest RDAC — established by passage of Senate Bill 55 (SB…
Researchers have gained new insights into the structure of the aromatic amino acid decarboxylase (AADC) enzyme — which is faulty or absent in people with AADC deficiency — that could help them interpret and predict the consequences of different disease-causing mutations. Regions of the DDC gene code for parts of…
Phreesia has acquired MediFind, which uses advanced analytics to help patients, particularly those with serious, chronic, and rare disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency, find better care. Phreesia offers digital solutions to healthcare providers, life sciences companies, and other organizations to help patients take…
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