Note: This story has been updated May 25, 2023, to state that data from the two children in the report were part of the data package that supported Upstaza’s approval in the European Union and the U.K. The first two aromatic l-amino acid decarboxylase (AADC) deficiency patients older than…
News
A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra, an online search engine that aims to make it easier to find information about, and thereby diagnose, rare diseases. OpenAI’s GPT API is an innovative deep-learning tool that uses artificial…
Most rare disease experts are in favor of using DNA sequencing to screen newborns for AADC deficiency and other genetic disorders that are not covered by current screening programs, according to a survey. “Early identification of infants who are at risk for genetic disorders can be lifesaving and screening…
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…
Recent Posts
- New platform aims for personalized gene editing for rare diseases
- Finding patience and perseverance in the rare disease journey
- 2025 studies in the dozens support genome-first testing in rare disease
- How we protect our mental health as rare disease parents
- Nonprofits partner to bring therapy for Wiskott-Aldrich syndrome to US