Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years after receiving a single dose of PTC Therapeutics’ gene therapy Upstaza (eladocagene exuparvovec), new clinical trial data show. Alexis Russell, PTC’s senior medical director, discussed the findings during…
The Sanford CoRDS 13th Annual Great Plains Rare Disease Summit will focus on rare neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The event, hosted by Sanford Research, will be held May 11-12 virtually and in person in Sioux Falls, South Dakota, and feature presentations by…
Undiagnosed and ultra-rare disease patients and their family members have joined efforts with clinicians and advocacy partners to create the Undiagnosed Diseases Network Foundation (UDNF) to help improve care for people with such rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. “By centering those left behind…
Michael A. Taylor of the Minnesota Twins baseball team has opened a “home-run challenge” to support Uplifting Athletes, a nonprofit rare disease advocacy and support platform, and the rare disease community. People can support the campaign by pledging a donation for every home run he hits during the…
The National Organization for Rare Disorders (NORD) is seeking to address health disparities in the rare disease community in the U.S. with the launch of new “Latino/a/x & Hispanohablantes Community Listening Sessions” — events for patients and caregivers who are, as the name says, Latino and Spanish-speaking individuals. Listening…
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,…
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