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.
News
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),…
Three rounds of anesthesia — two in infancy and the latest at age 6 — were conducted safely and without incident in a boy with aromatic l-amino acid decarboxylase (AADC) deficiency, according to a recent case report. While the results highlight that anesthesia can be successfully administered to…
A European Medicines Agency committee is expected to provide an assessment of PTC-AADC (eladocagene exuparvovec) gene therapy for treating aromatic l-amino acid decarboxylase (AADC) deficiency this month, which will inform the final decision about whether the treatment will receive marketing approval in Europe. The therapy’s developer, PTC…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
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