The first successes of gene therapy for AADC deficiency highlight the potential that gene therapies have to improve life for people affected by neurological disorders, researchers said in a new review paper. The paper, “Gene therapy for neurodegenerative disorders in children: dreams and realities,” was published…
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Following gene therapy, people with AADC deficiency should receive a few weeks of intensive physical therapy, with additional physical therapy and age-appropriate rehabilitative support in the months and years that follow. That’s according to new recommendations put forward in a paper, “A position statement on the…
The use of real-time magnetic resonance imaging (MRI) during direct-to-brain delivery of gene therapy may help optimize the safety and effectiveness of such therapeutics for neurological diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. In a recent review study published in JAMA Surgery, researchers at the Ohio…
Researchers have proposed a set of factors for doctors to consider when deciding if a patient is a good fit to undergo gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. Suggested criteria include: genetically and biochemically confirmed disease, lack of achievement of motor milestones and/or persistent movement disorders,…
Advanced genetic sequencing enabled the identification of a mutation — deep within a non-protein-coding portion of the DDC gene — that likely contributed to severe aromatic l-amino acid decarboxylase (AADC) deficiency in Japanese siblings, first diagnosed with the rare disease more than a decade ago. At the time of…
Machine learning, a form of artificial intelligence (AI), was applied to electronic health records to identify young people who may have undiagnosed aromatic l-amino acid decarboxylase (AADC) deficiency, a study reports. Based on a manual review, nearly 23% of the top-ranked predicted cases were…
A unusually mild case of aromatic l-amino acid decarboxylase (AADC) deficiency, one characterized by exercise-induced episodes of involuntary muscle contractions, was described in a recent report. Scientists suspect that this atypical presentation was responsible for a substantial delay in the boy’s AADC deficiency diagnosis, arrived at when he…
Researchers say childhood epilepsy and mild attention deficits were effectively “hiding” a case of mild aromatic l-amino acid decarboxylase (AADC) deficiency in a teenage girl, according to a new case report. “In this study, we describe a 13-year-old girl with late-onset, mild, and atypical AADC deficiency diagnosed ‘by chance’…
The U.S. Food and Drug Administration (FDA), in collaboration with Duke University’s Duke-Margolis Center for Health Policy, will hold a virtual public meeting on Thursday, Dec. 14 with an aim toward ultimately improving patient community engagement in the development of rare disease treatments — including ones for aromatic l-amino…
Most people with rare diseases given an experimental therapy through compassionate use programs show clinical benefits, and most of these treatments ultimately end up getting approved, according to a review study. Based on these findings, the researchers argued that such programs — allowing certain patients with limited options access to…
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