Marisa Wexler, MS, senior science writer —

The World Orphan Drug Alliance, known as WODA — a global coalition of pharmaceutical partners with rare disease portfolios — is expanding to cover more countries in Asia and Africa, according to a press release from the organization. The overarching aim, according to the alliance, is to provide greater…

The U.S. Food and Drug Administration (FDA) has responded favorably, in recent years, to the use of real-world data in applications that seek approval of new treatments for rare diseases — especially when the therapy has a dramatic and clear effect — a team of researchers concluded in a new…

Genetic testing done for a 55-year-old woman diagnosed with an unusually mild case of AADC deficiency revealed a disease-causing gene mutation never before reported, according to researchers. The newly identified mutation, while indeed found to be a cause of the patient’s genetic disease, still allowed for the relatively preserved…

Treatment with sertraline, an antidepressant sold under the brand name Zoloft among others, worked to ease anxiety in a young girl with AADC deficiency who had received treatment with the gene therapy Upstaza (eladocagene exuparvovec). The youngster was able to more effectively communicate, eat better, and walk independently…

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…

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…

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’…

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…

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…

PTC Therapeutics will meet with the U.S. Food and Drug Administration (FDA) in December to review the data the company intends to include in a regulatory application seeking the approval of its gene therapy Upstaza (eladocagene exuparvovec) for aromatic l-amino acid decarboxylase (AADC) deficiency. The meeting is expected…