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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…

About one in 10 medications sold in Canada have a patient support program provided by its manufacturer, and nearly half are for rare diseases. That’s according to a study in Canada that also found that patient support programs were offered more commonly for brand-name and expensive drugs. These programs, offered…

Skip Therapeutics is teaming up with the Sheba Medical Center in Israel to develop antisense oligonucleotides (ASOs), a type of therapy that can change a given gene’s activity, for rare diseases with a genetic basis. ASOs can be tailored to address specific genetic mutations, offering a bespoke treatment…

Although AADC deficiency is characterized by low levels of signaling molecules in the brain that impair its normal function, the disease may also cause neurodegeneration, a study suggests. Understanding how the disease may result in the gradual dysfunction, and ultimately death, of brain nerve cells could open up new…