Surgery guided by MRI and computer navigation safely and accurately delivered Upstaza (eladocagene exuparvovec, marketed as Kebilidi in the U.S.) in two children with AADC deficiency, a study reported. “Gene therapy for AADC deficiency proved both feasible and safe, with early clinical improvements observed in motor function and…
Children with rare diseases who have a gastrostomy tube, a feeding tube inserted through the belly and into the stomach, tend to have more inflamed gums, tartar buildup, and vomiting than those without those tubes, a study found. However, younger children with a gastrostomy tube had significantly fewer cavities than…
A newly developed cell model has been called “a significant step toward understanding the molecular mechanisms of AADC deficiency” and one that offers a platform for preclinical testing of new therapeutic candidates. “This model may pave the way for the development of precision therapies,” three researchers in Turkey and…
The Pennsylvania Senate has approved legislation to extend support for patients with rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency, by continuing the work of the Pennsylvania Rare Disease Advisory Council (PARDAC). PARDAC was established in 2017 to help Pennsylvania residents navigate life with a rare…
A podcast from the Pacific Northwest Research Institute (PNRI) called PNRI Science: Rare Disease, Real Progress returns for its second season with four episodes that explore how research into rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency is driving steps forward in healthcare. “Rare disease research is often…
The European Rare Diseases Research Alliance (ERDERA) was launched officially last week with the vision to offer better diagnosis and treatment for the 30 million people living in Europe with a rare disease like aromatic L-amino acid decarboxylase (AADC) deficiency. Coordinated by the National Institute of Health and…
The Department of Health-Abu Dhabi and AstraZeneca are partnering to set up a center of excellence for rare diseases in the capital city of the United Arab Emirates. The two parties have signed a memorandum of understanding that outlines how they will work together on their shared mission to…
UCB has launched Aspire4Rare, a framework to “future-proof” health policies for rare diseases like aromatic l-amino-acid decarboxylase (AADC) deficiency, with the goal being to ensure faster diagnoses, better care, and access to new treatments. Developed in collaboration with a panel of experts in rare diseases from the U.S.
PTC Therapeutics plans to seek the U.S. approval this month of Upstaza (eladocagene exuparvovec), its one-time gene therapy that’s meant to address the root cause of aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. The company met with the U.S. Food and Drug Administration (FDA)…
Measuring the levels of 3-O-methyldopa (3-OMD), a molecule that builds up in aromatic l-amino-acid decarboxylase (AADC) deficiency, can diagnose the disease in newborns, allowing it to be treated early in life, according to a German study. The study, “Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies,…
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