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A free live webinar on Sept. 20 will explore various aspects of rare disease clinical trials — and offer insight into the challenges researchers face in finding and enrolling participants, particularly those of diverse backgrounds. Those interested in attending can register now for the hour-long webinar, titled “Rare Disease…

The first in-person workshop of the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) initiative — going on its fourth edition and set for Sept. 13-14 — will focus on developing a treatment for rare disorders, such as aromatic l-amino acid decarboxylase (AADC) deficiency, through data sharing and…

The NORD Rare Diseases & Orphan Products Breakthrough Summit, set for Oct. 17–18, will feature a range of speakers and discussions about issues affecting the more than 300 million people worldwide thought to have a rare disease — including those with aromatic l-amino acid decarboxylase (AADC) deficiency. The…

The Inflation Reduction Act of 2022 (HR 5376) will help individuals with rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — to continue to receive safe and effective care, the National Organization for Rare Disorders (NORD) said in a statement lauding the new U.S. healthcare legislation.

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…