England’s National Institute for Health and Care Excellence (NICE) has recommended that the one-time gene therapy Upstaza (eladocagene exuparvovec) be provided at low or no cost to patients, ages 18 months and older, with severe aromatic l-amino acid decarboxylase (AADC) deficiency. The favorable decision from NICE’s final…
The misdiagnosis and delayed diagnosis of AADC deficiency is common and can prevent patients from getting timely access to the treatment they need, most often resulting in poor outcomes. That’s according to a report of 16 patients in the Middle East, one of whom was found to carry a…
The case of a girl with unexplained seizures in whom an epilepsy gene panel screening was the key toward a correct diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency was described in a report. “This case report shows that AADC deficiency can be the underlying diagnosis in patients with…
The 10th annual Rare Disease Genomics Symposium, hosted by the University of Alabama at Birmingham (UAB), will showcase the latest research into rare genetic diseases and focus on next-generation genetic testing and patient empowerment, the university announced. The free in-person and virtual symposium, set for Friday, brings together…
At a May 4 awards ceremony that will also mark the anniversary of its 1983 founding, the National Organization for Rare Disorders (NORD) will honor a group of rare disease innovators, advocates, and partners. This year’s Rare Impact Awards, presented at the Smithsonian National Portrait Gallery, in Washington,…
The route of administration now used for the gene therapy Upstaza (eladocagene exuparvovec) — directly into the brain region, called the putamen, that’s affected by aromatic L-amino acid decarboxylase (AADC) deficiency — is better than other modes of delivery, an animal study showed. The other tested routes included…
A diagnosis of AADC deficiency is often delayed, leading to poor clinical outcomes, as reported for three children in Saudi Arabia, one of whom carried a previously unidentified disease-causing DDC gene mutation. “There is an urgent need to raise awareness and improve diagnostic testing for rare diseases such as AADC deficiency…
PTC Therapeutics has been named the winner of the 2023 Eurordis Black Pearl award for innovation in rare diseases, which each year recognizes one company that contributes significantly to the advancement of research and development. Among other achievements, Eurordis — fully, the European Organization for Rare Diseases —…
As the 118th U.S. Congress begins its work, the National Organization for Rare Disorders (NORD) is showcasing the importance of engaging in health policy and what rare disease patient advocates can do to make their voices heard. The organization is the leading patient advocacy organization dedicated to improving the…
The national outcomes-based patient support organization Curant Health has joined rare360, a Rare Advocacy Movement (RAM) partnership program that seeks to connect, build up, and protect community-focused industry, academic, and advocacy stakeholders in rare disorders. “Being a partner with the Rare Advocacy Movement (RAM) and a registered…
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