News

Eurordis has welcomed as a “significant stride forward” the latest European Parliament plenary vote for compromise amendments to bridge the gap between accelerated scientific progress and patient care. The recent vote was in favor of proposed reforms to the European Union’s general pharmaceutical legislation, which includes proposed…

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…

PTC Therapeutics has submitted its application seeking the approval of Upstaza (eladocagene exuparvovec) — a one-time gene therapy to correct the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency — to the U.S. Food and Drug Administration (FDA). “We are excited to bring Upstaza one step closer to children…

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…

PTC Therapeutics plans to seek the U.S. approval this month of Upstaza (eladocagene exuparvovec), its one-time gene therapy that’s meant to address the root cause of aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. The company met with the U.S. Food and Drug Administration (FDA)…

Measuring the levels of 3-O-methyldopa (3-OMD), a molecule that builds up in aromatic l-amino-acid decarboxylase (AADC) deficiency, can diagnose the disease in newborns, allowing it to be treated early in life, according to a German study. The study, “Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies,…

About one in 39 individuals with neurological deficits on the Italian island of Sicily are carriers of genetic mutations associated with aromatic l-amino acid decarboxylase (AADC) deficiency, a higher prevalence than previously estimated, according to a recent study. Carriers are individuals with one mutated copy of the gene and…

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…