The goal of this year’s Global Genes RARE Patient Advocacy Summit, slated for Sept. 12–14, is to connect rare disease patients, advocates, caregivers, researchers, healthcare professionals, and industry stakeholders — including those involved with aromatic l-amino acid decarboxylase (AADC) deficiency. “For people living with any of the 10,000+ rare…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose AADC deficiency. The assay, which uses liquid chromatography-tandem mass spectrometry, was detailed in a study, “Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of…
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…
Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.
A novel gene mutation — which caused a case of aromatic l-amino acid decarboxylase (AADC) deficiency in a young boy — was found to directly impair a crucial step in the activity of the AADC enzyme without affecting its stability or production, a study reported. The researchers’ investigation helped…
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…
A less invasive airway device — called a supraglottic airway device or SAD — was found to safely and effectively maintain breathing in pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency during general anesthesia, according to a small study in Taiwan. These SADs were used for children with…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
The gene therapy Upstaza (eladocagene exuparvovec), formerly PTC-AADC, has been recommended for approval in the European Union for patients, ages 18 months and older, with severe aromatic l-amino acid decarboxylase (AADC) deficiency. The favorable opinion was made by the Committee for Medicinal Products for Human Use (CHMP),…
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